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Donor Catalog

Our donors pass the most rigorous screening process of any cryobank in the US.

Every gene essential to life is sequenced to ensure the health and safety of you and your baby, right down to the chromosomes.

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Genetic Testing

Each of our donors are tested for an extensive list of genetic conditions. Find conditions donors are negative for.

This tool allows you to filter out conditions you don’t want your donor to be a carrier of. Please note that some donors may have been tested with different genetic panels, meaning a filtered gene may not have been assessed. As a result, a donor may still appear as a potential match even if he was not tested for that condition. For a complete list of conditions screened, please view the full gene panel PDF included on each donor profile. If you have any questions, feel free to contact us.

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1L23R-related disease (IL23R)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL)
3-ketothiolase deficiency (ACAT1)
3-Methylcrotonyl-CoA carboxylase 1 deficiency (3-MCC deficiency) (MCCC1)
3-Methylcrotonyl-CoA carboxylase 2 deficiency (3-MCC deficiency) (MCCC2)
3MC syndrome 1 (MASP1)
Abetalipoproteinemia (MTTP)
Achondroplasia (FGFR3)
Achromatopsia (CNGB3)
Acrodermatitis enteropathica (SLC39A4)
Acrodysostosis 2 with or without hormone resistance (PDE4D)
Acrofacial dysostosis (POLR1A)
Acrofacial dysostosis 1 Nager type (SF3B4)
Acromelic frontonasal dysostosis (ZSWIM6)
Acyl-CoA dehydrogenase-9 (ACAD9) deficiency (ACAD9)
Adams-Oliver syndrome / Leukoencephalopathy with brain calcifications / Isolated congenital heart defects with or without aortic valve disease (NOTCH1)
Adams-Oliver syndrome 1 (ARHGAP31)
Adams-Oliver syndrome 3 (RBPJ)
Adams-Oliver syndrome 6 (DLL4)
Addison's disease (CYP21A1)
Adenosine deaminase deficiency (ADA)
ADULT syndrome (TP63)
Agammaglobulinemia X-linked 1 (BTK)
Aicardi Goutieres syndrome 2 (RNASEH2B)
Aicardi-Goutieres syndrome (AGS) / Singleton-Merton syndrome (IFIH1)
Aicardi-Goutieres syndrome (SAMHD1)
Aicardi–Goutières syndrome 6 (ADAR)
Aicardi–Goutières syndrome; familial chilblain lupus (TREX1)
Alagille syndrome / Hajdu-Cheney syndrome (NOTCH2)
Alagille syndrome 1 (JAG1)
Albinism oculocutaneous type III (TYRP1)
Alexander disease (GFAP)
Alkaptonuria (HGD)
Allan-Herndon-Dudley syndrome (SLC16A2)
Alpha Thalassemia (HBA1)
Alpha Thalassemia (HBA2)
Alpha thalassemia X-linked intellectual disability syndrome (ATRX)
Alpha-1-Antitrypsin (A1AT) Deficiency (SERPINA1)
Alpha-Mannosidosis (MAN2B1)
Alport syndrome (COL4A3)
Alport syndrome (COL4A4)
Alport syndrome COL4A3-related (COL4A3)
Alport syndrome COL4A4-related (COL4A4)
Alport syndrome COL4A5-related (COL4A5)
Alstrom syndrome (ALMS1)
Alveolar capillary dysplasia (FOXF1)
Andermann syndrome (SLC12A6)
Andersen syndrome (KCNJ2)
Androgen insensitivity syndrome (AR)
Anemia congenital dyserythropoietic type IIIA (KIF23)
Anemia sideroblastic with ataxia (ABCB7)
Angelman syndrome (UBE3A)
Angioedema hereditary 7 (MYOF)
Aniridia (PAX6)
Aniridia 2 (Aniridia 2)
aortic valve disease / craniosynostosis / syndromic structural heart defects / radioulnar synostosis (RUS) (SMAD6)
Arboleda-Tham syndrome (KAT6A)
Arginase deficiency (ARG1)
Argininosuccinate lyase deficiency (ASL)
Aromatase deficiency (CYP19A1)
Arrhythmogenic right ventricular dysplasia 13 (CTNNA3)
Arthrogryposis cleft palate craniosynostosis and impaired intellectual development (PPP3CA)
Arthrogryposis intellectual disability and seizures (SLC35A3)
Asparagine synthetase deficiency (ASNS)
Aspartylglucosaminuria (AGA)
Ataxia with isolated vitamin E deficiency (TTPA)
ataxia-pancytopenia (AP) syndrome (SAMD9L)
Ataxia-telangiectasia (ATM)
Ataxia–telangiectasia–like disorder 1 (MRE11)
Atransferrinemia (TF)
Atrial septal defect 9 (GATA6)
Atrial septal defects / Hypertrophic cardiomyopathy (HCM) / Dilated cardiomyopathy (DCM) (MYH6)
Atrioventricular septal defect
Atrioventricular septal defect, partial, with heterotaxy syndrome (CRELD1)
atypical cerebral palsy (EPHA4)
Atypical Hemolytic Uremic Syndrome 1 (CFH)
Atypical Hemolytic Uremic Syndrome 3 (CFI)
Au-Kline syndrome (HNRNPK)
Autism spectrum disorder with or without Cerebral Palsy (AGAP1)
Autoimmune lymphoproliferative syndrome type IB (FASLG)
Autoimmune polyendocrinopathy syndrome type I (AIRE)
autosomal dominant neurodevelopmental disorder / Schizophrenia (NRXN1)
Autosomal Dominant Polycystic kidney disease (PKD2)
Autosomal Dominant Tubulointerstitial kidney disease (ADTKD) (REN)
Autosomal recessive congenital myotonia (CLCN1)
Autosomal recessive deafness (DFNB3) (MYO15A)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (SACS)
Axenfeld-Rieger syndrome (PITX2)
Axenfeld-Rieger syndrome type 3 (FOXC1)
Ayme-Gripp syndrome (MAF)
developmental and epileptic encephalopathy / Early infantile epileptic encephalopathy (SLC12A5)
hereditary papillary renal cell carcinoma (HPRCC) / Arthrogryposis of the upper limbs (MET)
hypophosphatemic nephrolithiasis/osteoporosis (SLC34A1)
hypoplastic left heart syndrome
TERC-related dyskeratosis congenita (DC) spectrum disorders (TERC)
Bainbridge-Ropers syndrome (ASXL3)
Baker-Gordon syndrome (SYT1)
Baraitser-Winter syndrome 1 (ACTB)
Baraitser-Winter syndrome 2 (ACTG1)
Bardet-Biedl syndrome type 1 (BBS1)
Bardet-Biedl syndrome type 10 (BBS10)
Bardet-Biedl syndrome type 12 (BBS12)
Bardet–Biedl syndrome 4 (BBS4)
Bardet–Biedl syndrome 5 (BBS5)
Bardet–Biedl syndrome 7 (BBS7)
Bardet–Biedl syndrome 9 (BBS9)
Bare lymphocyte syndrome type II (CIITA)
Bartter syndrome (BSND)
Bartter syndrome 3 (CLCNKB)
Bartter syndrome type 4b digenic (CLCNKA)
Bartter syndrome type 5 antenatal transient (MAGED2)
Basal ganglia calcification idiopathic 1 (SLC20A2)
Basal ganglia calcification idiopathic 5 (PDGFB)
Basal ganglia calcification idiopathic 6 (XPR1)
Basilicata-Akhtar syndrome (MSL3)
BBS2-related ciliopathies (BBS2)
Beckwith-Wiedemann syndrome (CDKN1C)
Bernard-Soulier syndrome type A1 (GP1BA)
Bernard-Soulier syndrome type C (GP9)
Bestrophinopathy / Retinitis Pigmentosa 50 (BEST1)
Bethlem myopathy (COL6A3)
Bilateral frontoparietal polymicrogyria (ADGRG1)
Biotin-responsive basal ganglia disease (SLC19A3)
Biotinidase deficiency (BTD)
Birk-Barel syndrome (KCNK9)
Birt-Hogg-Dubé (FLCN)
Bladder dysfunction
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT (CHRNA3)
Bloom syndrome (BLM)
Bohring-Opitz syndrome (ASXL1)
Borjeson-Forssman-Lehmann syndrome (PHF6)
Bosch-Boonstra-Schaaf optic atrophy syndrome (NR2F1)
Bosma arhinia microphthalmia syndrome (SMCHD1)
Brachycephaly trichomegaly and developmental delay (RPS23)
Brachydactyly
brachydactyly type A1 (BDA1) (IHH)
Brachydactyly type A1/A2/C (GDF5)
brachydactyly type E (BDE) with and without short stature (PTHLH)
Brachydactyly, type A1/A2 and D (BMPR1B)
Brain malformations with or without urinary tract defects (NFIA)
Brain small vessel disease 2 (COL4A2)
Brain small vessel disease with or without ocular anomalies (COL4A1)
Branchio-oto-renal syndrome (SIX1)
Branchio-oto-renal syndrome (SIX5)
Branchiooculofacial syndrome (TFAP2A)
Branchiootorenal syndrome 1 (EYA1)
Breast and Prostate Cancer Susceptibility (RAD51B)
Breast cancer susceptibility (BARD1)
Breast cancer susceptibility (PALB2)
Brooke–Spiegler syndrome (CYLD)
Brugada syndrome 3 (CACNA1C)
Brugada syndrome 8 (HCN4)
Brugada syndrome 9 (KCND3)
Brunner syndrome (MAOA)
Bryant-Li-Bhoj neurodevelopmental syndrome 1 (H3-3A)
Bryant-Li-Bhoj neurodevelopmental syndrome 2 (H3-3B)
Buratti-Harel syndrome (SIAH1)
Buschke-Ollendorff syndrome (LEMD3)
Butyrylcholinesterase deficiency (BCHE)
C syndrome (CD96)
C3 glomerulopathy (CFHR5)
C7 Deficiency (C7)
Campomelic dysplasia (SOX9)
Canavan disease (ASPA)
Cantú syndrome (ABCC9)
Capillary malformation-arteriovenous malformation 1 (RASA1)
CAPN10-related disorder (CAPN10)
CAPOS syndrome (ATP1A3)
Carbamoylphosphate synthetase I deficiency (CPS1)
Cardiac facial and digital anomalies with developmental delay (TRAF7)
Cardiofaciocutaneous syndrome (BRAF)
Cardiofaciocutaneous syndrome 2 (KRAS)
Cardiofaciocutaneous syndrome 3 (MAP2K1)
Cardiofaciocutaneous syndrome 4 (MAP2K2)
Cardiomyopathy dilated 1JJ (LAMA4)
Carnitine palmitoyltransferase IA deficiency (CPT1A)
Carnitine palmitoyltransferase II deficiency (CPT2)
Carnitine-acylcarnitine translocase deficiency (SLC25A20)
Carpenter syndrome (RAB23)
Cartilage-Hair Hypoplasia Anauxetic Dysplasia Spectrum Disorder (RMRP)
CASP10-related disorder (CASP10)
Cataract (HSF4)
Cataract (HTR2A)
Cataract (MIP)
Cataract 1 (GJA8)
Cataract 10 (CRYBA1)
Cataract 12 multiple types (BFSP2)
Cataract 14 (GJA3)
Cataract 16 / Myofibrillar Myopathy 2A/2B (CRYAB)
Cataract 17 (CRYBB1)
Cataract 2 (CRYGC)
Cataract 20 (CRYGS)
Cataract 23 (CRYBA4)
Cataract 3 (CRYBB2)
Cataract 31 (CHMP4B)
Cataract 34 / Anterior Segement Dysgenesis 2 (FOXE3)
Cataract 39 (CRYGB)
Cataract 4 (CRYGD)
Cataract 6 (EPHA2)
Cataract 9 (CRYAA)
Catecholaminergic polymorphic ventricular tachycardia (CASQ2)
Catecholaminergic polymorphic ventricular tachycardia (TRDN)
Caudal regression syndrome (VANGL1)
CEBALID syndrome (MN1)
Cenani-Lenz syndactyly syndrome (CLSS) / Congenital myasthenic syndrome (LRP4)
CEP290-related Ciliopathies (CEP290)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CAMTA1)
cerebral amyloid angiopathy (ITM2B)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (NOTCH3)
Cerebral cavernous malformations (CCM2)
Cerebral cavernous malformations-1 (KRIT1)
Cerebral cavernous malformations-3 (PDCD10)
Cerebrocostomandibular syndrome (SNRPB)
Cerebrotendinous xanthomatosis (CYP27A1)
Ceroid lipofuscinosis neuronal 4 (Kufs type) autosomal dominant (DNAJC5)
Char syndrome (TFAP2B)
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2O (DYNC1H1)
Charcot-Marie-Tooth disease GDAP1-related (GDAP1)
Charcot-Marie-Tooth disease SH3TC2-related (SH3TC2)
Charcot-Marie-Tooth disease type 2C (CMT2C) / Distal hereditary motor neuropathy type 8 (HMN8) / Scapuloperoneal spinal muscular atrophy (SPSMA) / Multiple TRPV4-related skeletal dysplasias (TRPV4)
Charcot-Marie-Tooth disease type 2D (GARS1)
Charcot-Marie-Tooth disease type 2Y (VCP)
Charcot-Marie-Tooth disease type 4B1 (MTMR2)
Charcot-Marie-Tooth disease type 4D (NDRG1)
Charcot-Marie-Tooth disease X-linked type 1 (GJB1)
Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
Charcot-Marie-Tooth disease, type 4J / Yunis-Varon syndrome (FIG4)
Charcot-Marie-Tooth type 2A (MFN2)
CHARGE syndrome (CHD7)
Chediak-Higashi syndrome (LYST)
CHILD syndrome (NSDHL)
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DYTOABG) (MECR)
Childhood-onset severe retinal dystrophy AIPL1-related (AIPL1)
Chilton-Okur-Chung neurodevelopmental syndrome (CDC42BPB)
CHIME syndrome (PIGL)
Chitayat syndrome (ERF)
Chondrodysplasia punctata type 1 X-linked (ARSL)
Chondrodysplasia with platyspondyly distinctive brachydactyly hydrocephaly and microphthalmia (HDAC6)
CHOPS syndrome (AFF4)
Choreoacanthocytosis (VPS13A)
Choreoathetosis hypothyroidism and neonatal respiratory distress (NKX2-1)
Choroideremia (CHM)
Chronic granulomatous disease (CYBA)
Chronic granulomatous disease 1 (NCF1)
Chronic granulomatous disease X-linked (CYBB)
chronic kidney disease
chronic kidney disease, seizures and hypothyroidism (SEMA3E)
Chung-Jansen syndrome (PHIP)
Ciliary dyskinesia primary 40 (DNAH9)
CIMDAG syndrome (VPS4A)
CINCA syndrome (NLRP3)
Citrin deficiency (SLC25A13)
Citrullinemia (ASS1)
cleft lip/palate-ectodermal dysplasia syndrome (NECTIN1)
Cleft palate cardiac defects and impaired intellectual development (MEIS2)
Cleft palate psychomotor retardation and distinctive facial features (KDM1A)
Cleidocranial dysplasia / metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (RUNX2)
Cockayne syndrome type A (ERCC8)
Coffin-Lowry syndrome (RPS6KA3)
Coffin-Siris syndrome 1 (ARID1B)
Coffin-Siris syndrome 10 (SOX4)
Coffin-Siris syndrome 11 (SMARCD1)
Coffin-Siris syndrome 12 (BICRA)
Coffin-Siris syndrome 2 (ARID1A)
Coffin-Siris syndrome 3 (SMARCB1)
Coffin-Siris syndrome 4 (SMARCA4)
Coffin-Siris syndrome 5 (SMARCE1)
Coffin-Siris syndrome 6 (ARID2)
Coffin-Siris syndrome 7 (DPF2)
Coffin-Siris syndrome 8 (SMARCC2)
Cognitive impairment with or without cerebellar ataxia (SCN8A)
Cohen syndrome (VPS13B)
Cohen-Gibson syndrome (EED)
Cole-Carpenter syndrome 1 (P4HB)
Coloboma ocular with or without hearing impairment cleft lip/palate and/or impaired intellectual development (YAP1)
Colon cancer predisposition / Diamond-Blackfan anemia (DBA) (RPS20)
Colorectal cancer susceptibility (BUB1B)
Colorectal cancer susceptibility (GALNT12)
Combined malonic and methylmalonic aciduria (ACSF3)
Combined oxidative phosphorylation deficiency 39 (GFM2)
Combined oxidative phosphorylation deficiency 6 (AIFM1)
Combined oxidative phosphorylation deficiency GFM1-related (GFM1)
Combined oxidative phosphorylation deficiency TSFM-related (TSFM)
Combined pituitary hormone deficiency 2 (PROP1)
Combined pituitary hormone deficiency 3 (LHX3)
Common Variable Immunodeficiency 3 (CD19)
Complex Camptosynpolydactyly (BHLHA9)
cone-rod dystrophy (CRD) / Retinitis pigmentosa (RP) / Bardet-Biedl symdrome (CFAP418)
Cone-rod dystrophy (PITPNM3)
Cone-rod dystrophy (RIMS1)
Cone-rod dystrophy 3/14 (GUCA1A)
Congenital Adrenal Hyperplasia (CYP21A2)
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1)
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
Congenital adrenal hypoplasia X-linked (NR0B1)
Congenital adrenal insufficiency (CYP11A1)
Congenital amegakaryocytic thrombocytopenia (MPL)
Congenital anomalies of kidney and urinary tract 1 (DSTYK)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss abnormal ears or developmental delay (PBX1)
congenital anomalies of the kidney and urinary tract (CAKUT) / Kallmann syndrome / syndromic ocular anomalies (SLIT2)
Congenital anomalies of the kidney and urinary tract (NRIP1)
Congenital Cataracts / Anterior Segment Mesenchymal Dysgenesis (PITX3)
congenital central hypoventilation syndrome (CCHS) (PHOX2B)
Congenital Disorder of Glycosylation type 1a (PMM2)
Congenital disorder of glycosylation type Ib (MPI)
Congenital disorder of glycosylation type Ic (ALG6)
Congenital disorder of glycosylation type Iim (SLC35A2)
Congenital disorder of glycosylation type Iir (ATP6AP2)
Congenital disorder of glycosylation type Iy (SSR4)
Congenital heart defects 5 (GATA5)
Congenital heart defects and ectodermal dysplasia (PRKD1)
Congenital heart defects and skeletal malformations syndrome (ABL1)
Congenital heart defects dysmorphic facial features and intellectual developmental disorder (CDK13)
congenital heart defects with
congenital heart defects with, or without, dilated cardiomyopathy (TBX20)
congenital heart disease / Evans syndrome (NFATC1)
Congenital hydrocephalus 1 (CCDC88C)
Congenital hypothyroidism DUOX2-related (DUOX2)
Congenital hypothyroidism DUOXA2-related (DUOXA2)
Congenital hypothyroidism TSHB-related (TSHB)
Congenital Ichthyosis (TGM1)
Congenital insensitivity to pain with anhidrosis (NTRK1)
Congenital lipodystrophy (BSCL2)
Congenital macrothrombocytopenia (ACTN1)
Congenital myasthenic syndrome (CHRNE)
Congenital nephrotic syndrome type 1 (NPHS1)
Congenital nephrotic syndrome type 2 (NPHS2)
Congenital secretory chloride diarrhea (SLC26A3)
Conotruncal heart malformations variable (NKX2-5)
conotruncal heart malformations (NKX2-6)
Convulsions familial infantile with paroxysmal choreoathetosis (PRRT2)
COPA syndrome (COPA)
Corneal endothelial dystrophy (SLC4A11)
Cornelia de Lange syndrome (RAD21)
Cornelia de Lange syndrome 1 (NIPBL)
Cornelia de Lange syndrome 2 (SMC1A)
Cornelia de Lange syndrome 3 (SMC3)
Cornelia de Lange syndrome 5 (HDAC8)
Cornelia de Lange–like syndrome 6 (BRD4)
Corpus callosum agenesis of with impaired intellectual development ocular coloboma and micrognathia (IGBP1)
Cortical dysplasia complex with other brain malformations 1 (TUBB3)
Cortical dysplasia complex with other brain malformations 3 (KIF2A)
Cortical dysplasia complex with other brain malformations 4 (TUBG1)
Cortical dysplasia complex with other brain malformations 5 (TUBB2A)
Cortical dysplasia complex with other brain malformations 7 (TUBB2B)
Corticosterone methyloxidase deficiency (CYP11B2)
Costeff syndrome (OPA3)
Costello syndrome (HRAS)
Cowden syndrome 1 (PTEN)
Cowden syndrome 4 (KLLN)
Cowden syndrome 6 (AKT1)
Craniofrontonasal dysplasia (EFNB1)
Craniometaphyseal dysplasia (ANKH)
craniosynostosis (EFNA4)
Craniosynostosis / Kallman syndrome (TCF12)
CRB1-related retinopathy (CRB1)
Creatine deficiency syndrome (SLC6A8)
Creutzfeldt-Jakob disease (PRNP)
Crigler-Najjar syndrome (UGT1A1)
Crouzon syndrome (FGFR2)
CTNNA1-related diffuse gastric cancer (CTNNA1)
CTNNB1-related disorder (CTNNB1)
Culler-Jones syndrome (GLI2)
Currarino syndrome (MNX1)
Cutis laxa 3 / Spastic Paraplegia 9A (ALDH18A1)
CYP2A6-related disorder (CYP2A6)
CYP2C9-related disorder (CYP2C9)
Cystic Fibrosis (CFTR)
Cystinosis (CTNS)
D-2-hydroxyglutaric aciduria 2 (IDH2)
D-bifunctional protein deficiency (HSD17B4)
Danon disease (LAMP2)
Darier disease (ATP2A2)
Deafness
Deafness DFNB7/11 (TMC1)
Deafness X-linked 7 (GPRASP2)
Deafness, autosomal dominant 1, with or without thrombocytopenia (DIAPH1)
den Hoed-de Boer-Voisin syndrome (SATB1)
Dent disease 1 (CLCN5)
Dentatorubral-pallidoluysian atrophy (ATN1)
Denys-Drash syndrome / Wilms tumor syndrome (WT1)
Desanto-Shinawi syndrome (WAC)
Desbuquois dysplasia (CANT1)
developmental and epileptic encephalopathy (RAB11A)
developmental and epileptic encephalopathy / Early infantile epileptic encephalopathy (NUS1)
developmental and epileptic encephalopathy / Early infantile epileptic encephalopathy (STXBP1)
Developmental and epileptic encephalopathy 100 (FBXO28)
Developmental and epileptic encephalopathy 109 (FZR1)
Developmental and epileptic encephalopathy 11 (SCN2A)
Developmental and epileptic encephalopathy 112 (KCNH5)
Developmental and epileptic encephalopathy 14 (KCNT1)
Developmental and epileptic encephalopathy 17 (GNAO1)
Developmental and epileptic encephalopathy 19 (GABRA1)
Developmental and epileptic encephalopathy 2 (CDKL5)
Developmental and epileptic encephalopathy 24 (HCN1)
Developmental and epileptic encephalopathy 26 (KCNB1)
Developmental and epileptic encephalopathy 28 / Spinocerebellar ataxia 12 (WWOX)
Developmental and epileptic encephalopathy 30 (SIK1)
Developmental and epileptic encephalopathy 31A (DNM1)
Developmental and epileptic encephalopathy 32 (KCNA2)
Developmental and epileptic encephalopathy 33 (EEF1A2)
Developmental and epileptic encephalopathy 36 (ALG13)
Developmental and epileptic encephalopathy 41 (SLC1A2)
Developmental and epileptic encephalopathy 42 (CACNA1A)
Developmental and epileptic encephalopathy 43 (GABRB3)
Developmental and epileptic encephalopathy 45 (GABRB1)
Developmental and epileptic encephalopathy 46 (GRIN2D)
Developmental and epileptic encephalopathy 47 (FGF12)
Developmental and epileptic encephalopathy 5 (SPTAN1)
Developmental and epileptic encephalopathy 56 (YWHAG)
Developmental and epileptic encephalopathy 57 (KCNT2)
Developmental and epileptic encephalopathy 58 (NTRK2)
Developmental and epileptic encephalopathy 59 (GABBR2)
Developmental and epileptic encephalopathy 62 (SCN3A)
Developmental and epileptic encephalopathy 64 (RHOBTB2)
Developmental and epileptic encephalopathy 65 (CYFIP2)
Developmental and epileptic encephalopathy 66 (PACS2)
Developmental and epileptic encephalopathy 67 (CUX2)
Developmental and epileptic encephalopathy 69 (CACNA1E)
Developmental and epileptic encephalopathy 7 (KCNQ2)
Developmental and epileptic encephalopathy 70 (PHACTR1)
Developmental and epileptic encephalopathy 72 (NEUROD2)
Developmental and epileptic encephalopathy 73 (RNF13)
Developmental and epileptic encephalopathy 74 (GABRG2)
Developmental and epileptic encephalopathy 78 (GABRA2)
Developmental and epileptic encephalopathy 79 (GABRA5)
Developmental and epileptic encephalopathy 8 (ARHGEF9)
Developmental and epileptic encephalopathy 87 (CDK19)
Developmental and epileptic encephalopathy 9 (PCDH19)
Developmental and epileptic encephalopathy 90 (FGF13)
Developmental and epileptic encephalopathy 92 (GABRB2)
Developmental and epileptic encephalopathy 94 (CHD2)
Developmental delay dysmorphic facies and brain anomalies (U2AF2)
Developmental delay hypotonia and impaired language (FBXW7)
Developmental delay impaired growth dysmorphic facies and axonal neuropathy (MORC2)
Developmental delay with or without dysmorphic facies and autism (TRRAP)
Developmental delay with or without intellectual impairment or behavioral abnormalities (TAOK1)
Developmental delay with variable intellectual disability and dysmorphic facies (JARID2)
Developmental delay with variable intellectual impairment and behavioral abnormalities (TCF20)
DFNB1 Non-syndromic Hearing Loss (GJB6)
Diabetes insipidus nephrogenic 1 (AVPR2)
Diamond Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
Diamond-Blackfan anemia 1 (RPS19)
Diamond-Blackfan anemia 11 (RPL26)
Diamond-Blackfan anemia 12 (RPL15)
Diamond-Blackfan anemia 5 (RPL35A)
Diamond-Blackfan anemia 7 (RPL11)
Diamond-Blackfan anemia 8 (RPS7)
Diamond–Blackfan anemia (RPL5)
Diamond–Blackfan anemia (RPS10)
Diamond–Blackfan anemia (RPS24)
Diamond–Blackfan anemia (RPS26)
Dias-Logan syndrome (BCL11A)
DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (DICER1)
Diencephalic-mesencephalic junction dysplasia syndrome 1 (PCDH12)
Diets-Jongmans syndrome (KDM3B)
Diffuse Hereditary Leukoencephalopathy with spheroids 1 (CSF1R)
DiGeorge-like syndrome (CRKL)
Dihydrolipoamide dehydrogenase deficiency (DLD)
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Dilated cardiomyopathy (CASZ1)
Disabling pansclerotic morphea of childhood (STAT4)
Distal arthrogryposis type 3 (PIEZO2)
distal renal tubular acidosis (dRTA) (SLC4A1)
DMD-related Dystrophinopathies (DMD)
Donnai–Barrow syndrome (LRP2)
DOPA-responsive dystonia (GCH1)
doughnut lesion of calvaria and bone fragility syndrome (SGMS2)
Dowling-Degos disease 2 (POFUT1)
Doyne honeycomb degeneration of retina with or without Open Angle Glaucoma (EFEMP1)
Dravet syndrome (SCN1A)
Duane retraction syndrome 3 (MAFB)
Dyschromatosis universalis hereditaria 3 (ABCB6)
Dyskeratosis congenita (DKC1)
Dyskeratosis congenita autosomal dominant 3 (TINF2)
Dyskeratosis Congenita type 4 (RTEL1)
Dyskeratosis congenita type 5 (RTEL1)
Dyskinesia with orofacial involvement (ADCY5)
Dystonia 23 (CIZ1)
Dystonia 24 (ANO3)
Dystonia-11 myoclonic (SGCE)
Dystrophic epidermolysis bullosa (COL7A1)
early infantile epileptic encephalopathy (DMXL2)
Early-onset global developmental delay and developmental and epileptic encephalopathy (KCND2)
Ectodermal dysplasia 14
Ectodermal dysplasia 14, hypohidrotic/hair/tooth/nail type (TSPEAR)
Ectodermal dysplasia with facial dysmorphism and acral ocular and brain anomalies (RHOA)
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome dermatosparaxis type (ADAMTS2)
Ehlers-Danlos syndrome with kyphoscoliosis PLOD1-related (PLOD1)
Ehlers-Danlos Syndrome, Vascular type (COL3A1)
Ehlers–Danlos-like syndrome due to tenascin-X deficiency (TNXB)
EIF4E-related disorder (EIF4E)
Emery-Dreifuss muscular dystrophy (EMD)
Emery-Dreifuss muscular dystrophy type 2 (EDMD2) / Limb-girdle muscular dystrophy type 1B (LGMD1B) / Dilated cardiomyopathy (DCM) (LMNA)
Encephalitis/encephalopathy mild with reversible myelin vacuolization (MYRF)
Encephalopathy familial with neuroserpin inclusion bodies (SERPINI1)
endothelial corneal dystrophy (ZNF143)
Endothelial dystrophy
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MIR184)
Epilepsy early-onset 2 with or without developmental delay (SETD1A)
Epilepsy early-onset 3 with or without developmental delay (ATP6V0C)
Epilepsy familial focal with variable foci 2 (NPRL2)
Epilepsy familial focal with variable foci 3 (NPRL3)
Epilepsy familial temporal lobe 1 (LGI1)
Epilepsy focal with speech disorder and with or without impaired intellectual development (GRIN2A)
Epilepsy idiopathic generalized 10 (GABRD)
Epilepsy juvenile absence susceptibility to 1 (EFHC1)
Epilepsy nocturnal frontal lobe 1 (CHRNA4)
Epilepsy nocturnal frontal lobe 3 (CHRNB2)
Epilepsy nocturnal frontal lobe type 4 (CHRNA2)
Epilepsy progressive myoclonic 11 (SEMA6B)
Epilepsy progressive myoclonic 7 (KCNC1)
Epilepsy X-linked 2 with or without impaired intellectual development and dysmorphic features (GABRA3)
Epiphyseal chondrodysplasia
Episodic ataxia type 6 (SLC1A3)
Episodic ataxia/myokymia syndrome (KCNA1)
Episodic pain syndrome familial 2 (SCN10A)
ERBB4-related disorder (ERBB4)
ERCC2-related disorders (ERCC2)
ERCC6-related disorders (ERCC6)
Ethylmalonic encephalopathy (ETHE1)
EVC-related bone growth disorders (EVC)
EVC2-related bone growth disorders (EVC2)
Exudative vitreoretinopathy 1 (FZD4)
Fabry disease (GLA)
Facial dysmorphism hypertrichosis epilepsy intellectual/developmental delay and gingival overgrowth syndrome (KCNK4)
Factor V Leiden (F5)
Factor VII deficiency (F7)
Factor XI deficiency (F11)
Familial Acute Myeloid Leukemia (CEBPA)
Familial adenomatous polyposis (APC)
Familial amyloidosis
Familial amyloidosis, Finnish type (GSN)
Familial Dysautonomia (ELP1)
Familial dysautonomia (IKBKAP)
Familial erythrocytosis 3 (EGLN1)
familial exudative vitreoretinopathy (FEVR) (TSPAN12)
Familial focal epilepsy with variable foci 1 (DEPDC5)
Familial hemiplegic migraine 2 / Alternating Hemiplegia of Childhood 1 / Developmental and epileptic encephalopaty 98 (ATP1A2)
Familial hyperaldosteronism
Familial hyperaldosteronism, type 3 (KCNJ5)
Familial hyperinsulinism (ABCC8)
Familial hypocalciuric hypercalcemia 1 (CASR)
Familial Mediterranean fever (MEFV)
familial platelet disorder with associated myeloid malignancy (RUNX1)
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (MIR204)
familial temporal lobe epilepsy (ETL1) (MICAL1)
familial visceral amyloidosis (LYZ)
Fanconi anemia group A (FANCA)
Fanconi anemia group C (FANCC)
Fanconi anemia group G (FANCG)
Fanconi renotubular syndrome 3 (EHHADH)
Fanconi–Bickel syndrome (SLC2A2)
Feingold syndrome 1 (MYCN)
FG syndrome 4 (CASK)
Fibrodysplasia ossificans progressiva (ACVR1)
Fibrosis of extraocular muscles congenital 1/3B (KIF21A)
FKRP Alpha-dystroglycanopathies (FKRP)
FKTN Alpha-dystroglycanopathies (FKTN)
Fliedner-Zweier syndrome (SCAF4)
Floating-Harbor syndrome (SRCAP)
Focal dermal hypoplasia (PORCN)
Focal Segmental Glomerulosclerorsis 1 (ACTN4)
Focal Segmental Glomerulosclerorsis 8 (ANLN)
Focal segmental glomerulosclerosis (PODXL)
focal segmental glomerulosclerosis (SYNPO)
Focal Segmental Glomerulosclerosis 3 (CD2AP)
Focal segmental glomerulosclerosis and neurodevelopmental syndrome (TRIM8)
Fontaine progeroid syndrome (SLC25A24)
Fragile XE syndrome (AFF2)
Fraser syndrome (GRIP1)
Friedreich ataxia (FXN)
Frontometaphyseal dysplasia 1 (FLNA)
Frontometaphyseal dysplasia 2 (MAP3K7)
frontonasal dysplasia / congenital anomalies of the kidney and urinary tract (CAKUT) / autism spectrum disorder (SIX2)
Frontotemporal dementia 2 (GRN)
Fumarase deficiency (FH)
G6PD deficiency (G6PD)
Gabriele-de Vries syndrome (YY1)
Galactokinase deficiency (GALK1)
Galactose epimerase deficiency (GALE)
Galactosemia (GALT)
Galloway-Mowat syndrome 2 X-linked (LAGE3)
GAND syndrome (GATAD2B)
Gastrointestinal stromal tumor (GIST)-plus syndrome (PDGFRA)
Gaucher disease (GBA)
Gaucher disease (GBA1)
generalized epilepsy and paroxysmal dyskinesia (GEPD) (KCNMA1)
generalized epilepsy with febrile seizures (SCN1B)
Generalized epilepsy with febrile seizures plus type 9 (STX1B)
genetic epilepsy with febrile seizures plus (GEFS+) / primary erythromelalgia / small fiber neuropathy (SFNP) / paroxysmal extreme pain disorder (PEXPD) (SCN9A)
Genitourinary and/or/brain malformation syndrome (PPP1R12A)
GIGYF2-related disorder (GIGYF2)
Gitelman syndrome (SLC12A3)
Glass syndrome (SATB2)
GLB1-related gangliosidoses (GLB1)
Global developmental delay absent or hypoplastic corpus callosum and dysmorphic facies (ZNF148)
Global developmental delay with or without impaired intellectual development (CUX1)
Global developmental delay with speech and behavioral abnormalities (TNRC6B)
glucose transporter type 1 deficiency syndrome (Glut1 DS) (SLC2A1)
Glutamate formiminotransferase deficiency (FTCD)
Glutaric aciduria IIA (ETFA)
Glutaric aciduria IIB (ETFB)
Glutaric aciduria IIC (ETFDH)
Glutaric aciduria type I (GCDH)
Glycerol kinase deficiency (GK)
Glycine encephalopathy (AMT)
Glycine encephalopathy GLDC-related (GLDC)
Glycogen storage disease IV (GBE1)
Glycogen storage disease type 1a (G6PC)
Glycogen storage disease type Ib (SLC37A4)
Glycogen storage disease type III (AGL)
Glycogen storage disease type IXa1/2 (PHKA2)
Glycogen storage disease type V (PYGM)
Glycogen storage disease VII (PFKM)
GNAQ-related disorder (GNAQ)
Gorlin syndrome / Congenital Ocular Motor Apraxia (COMA) (SUFU)
Gout with or without autism spectrum disorder (ABCG2)
GPD2-related disorder (GPD2)
Greig cephalopolysyndactyly syndrome (GLI3)
growth delay due to insulin-like growth factor I resistance / Craniosynostosis (IGF1R)
Growth retardation
Growth retardation, developmental delay, facial dysmorphism (FTO)
Guanidinoacetate methyltransferase deficiency (GAMT)
Gyrate atrophy of choroid and retina (OAT)
Hand-foot-genital syndrome / Guttmacher syndrome (HOXA13)
Hao-Fountain syndrome (USP7)
Hartnup disorder (SLC6A19)
HBB-related Hemoglobinopathies (HBB)
HCRT-related disorder (HCRT)
Helsmoortel-van der Aa syndrome (ADNP)
Hemochromatosis type 2A (HJV)
Hemochromatosis type 3 (TFR2)
Hemolytic anemia congenital X-linked (ATP11C)
Hemophagocytic lymphohistiocytosis familial 2 (PRF1)
Hemophilia A (F8)
Hemophilia B (F9)
Hepatocerebral mitochondrial DNA depletion syndrome MPV17-related (MPV17)
Hereditary Amyloidosis (APOA1)
Hereditary breast–ovarian cancer syndrome (BRCA1)
Hereditary breast–ovarian cancer syndrome (BRCA2)
Hereditary diffuse gastric cancer (CDH1)
Hereditary folate malabsorption (SLC46A1)
Hereditary fructose intolerance (ALDOB)
Hereditary Hemochromatosis type 1 (HFE)
Hereditary Leiomyomatosis and renal cell cancer (HLRCC) (FH)
Hereditary mixed polyposis syndrome (HMPS) (GREM1)
Hereditary Motor and Sensory Neuropathy type VIB (SLC25A46)
hereditary multiple osteochondromas (HMO) (EXT1)
hereditary multiple osteochondromas (HMO) (EXT2)
hereditary optic atrophy (OPA) / Optic atrophy plus syndrome (DOA+) / Mitochondrial DNA deletion syndrome (OPA1)
Hereditary Pancreatitis (CPA1)
Hereditary pancreatitis (PRSS1)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (SDHA)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (SDHB)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (SDHC)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (SDHD)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (TMEM127)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome / Neuroblastoma / Charcot-Marie-Tooth disease (CMT) (KIF1B)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome / Renal cancer and pituitary adenoma predisposition (MAX)
Hereditary paraganglioma–pheochromocytoma syndrome (PGL2) (SDHAF2)
Hereditary spastic paraplegia 30 (SPG30) / Complicated spastic paraplegia and intellectual disability 9 (ID9) (KIF1A)
Hereditary spastic paraplegia 39 (SPG39) / Boucher-Neuhauser syndrome (BNHS) / Oliver-McFarlane syndrome (OMCS) / Lawrence-Moon syndrome (LNMS) (PNPLA6)
hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) (TTR)
Hermansky-Pudlak syndrome 1 (HPS1)
Hermansky-Pudlak syndrome 3 (HPS3)
Heterotaxy / Holoprosencephaly (NODAL)
Heyn-Sproul-Jackson syndrome (DNMT3A)
Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
Hirschsprung disease cardiac defects and autonomic dysfunction (ECE1)
Hirschsprung disease with or without cardiac defects (GDNF)
Holocarboxylase synthetase deficiency (HLCS)
Holoprosencephaly (SHH)
Holoprosencephaly (SIX3)
Holoprosencephaly / Congenital heart disease
Holoprosencephaly / Congenital heart disease, including tetralogy of Fallot and heterotaxy (FOXH1)
Holoprosencephaly 10 (DISP1)
Holoprosencephaly 11 (CDON)
Holoprosencephaly 4 (TGIF1)
Holoprosencephaly 5 (ZIC2)
Holoprosencephaly 7 (PTCH1)
Holt–Oram syndrome (TBX5)
Homocystinuria (CBS)
Homocystinuria (MTHFR)
Homocystinuria due to cystathionine beta-synthase deficiency (CBS)
Homocystinuria-megaloblastic anemia cobalamin E type (MTRR)
Houge-Janssens syndrome 1 (PPP2R5D)
Houge-Janssens syndrome 2 (PPP2R1A)
Houge-Janssens syndrome 3 (PPP2CA)
HSD10 mitochondrial disease (HSD17B10)
HTR1A-related disorder (HTR1A)
Hydrolethalus syndrome (HYLS1)
Hyper IgM syndrome X-linked (CD40LG)
Hyper-IgE syndrome (STAT3)
Hyperekplexia 1 (GLRA1)
Hyperferritinemia-cataract syndrome (FTL)
Hypermethioninemia due to adenosine kinase deficiency (ADK)
Hypermethioninemia due to deficiency of S-adenosylhomocysteine hydrolase (AHCY)
Hyperornithinemia- hyperammonemia-homocitrullinemia syndrome (Triple H syndrome) (SLC25A15)
Hyperparathyroidism–jaw tumor syndrome (CDC73)
Hyperprolinemia type II (ALDH4A1)
Hypertension and brachydactyly syndrome (PDE3A)
Hypocalcemia 2 (GNA11)
Hypocalciuric hypercalcemia type III (AP2S1)
Hypogonadotropic hypogonadism (SPRY4)
Hypogonadotropic hypogonadism 19 with or without anosmia (DUSP6)
Hypogonadotropic hypogonadism 21 with anosmia (FLRT3)
Hypogonadotropic hypogonadism 6 with or without anosmia (FGF8)
Hypogonadotropic hypogonadism GNRHR-related (GNRHR)
Hypogonadotropic hypogonadism with or without anosmia (AXL)
hypogonadotropic hypogonadism with or without anosmia (FGF17)
hypogonadotropic hypogonadism with or without anosmia (HS6ST1)
hypogonadotropic hypogonadism with or without anosmia (IGSF10)
hypogonadotropic hypogonadism with or without anosmia (SEMA3A)
hypogonadotropic hypogonadism with or without anosmia (WDR11)
Hypohidrotic ectodermal dysplasia (EDA)
Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
hypokalemic periodic paralysis type 2 (HOKPP2) / hyperkalemic periodic paralysis (HYPP) / paramyotonia congenita (PMC) / potassium-aggravated myotonia / congenital myopathy (SCN4A)
Hypomagnesemia
Hypomagnesemia 2 renal (FXYD2)
Hypomagnesemia seizures and impaired intellectual development 2 (ATP1A1)
Hypomagnesemia, seizures, and impaired intellectual development 1 (CNNM2)
Hypomyelinating leukodystrophy 12 (VPS11)
Hypomyelinating leukodystrophy 13 (C11orf73)
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (DARS )
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (DARS1)
Hypoparathyroidism 4 (GCM2)
Hypoparathyroidism sensorineural deafness and renal dysplasia (GATA3)
Hypophosphatasia (ALPL)
hypophosphatemic nephrolithiasis and osteoporosis (SLC9A3R1)
Hypophosphatemic rickets (FGF23)
Hypothyroidism central and testicular enlargement (IGSF1)
Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia (PAX8)
Hypothyroidism congenital nongoitrous 6 (THRA)
Hypothyroidism congenital nongoitrous 8 (TBL1X)
Hypotonia ataxia and delayed development syndrome (EBF3)
Hypotonia ataxia developmental delay and tooth enamel defect syndrome (CTBP1)
Hypotrichosis-lymphedema-telangiectasia (SOX18)
Idiopathic Generalized Epilepsy 15 (RORB)
Idiopathic Generalized Epilepsy 17 (HCN2)
Idiopathic Generalized Epilepsy 6 (CACNA1H)
Idiopathic Generalized Epilepsy 9 (CACNB4)
Idiopathic hypogonadotropic hypogonadism (IHH) (SRA1)
IL10-related disease (IL10)
IL17F-related disease (IL17F)
Imagawa-Matsumoto syndrome (SUZ12)
Imerslund–Gräsbeck syndrome (AMN)
Immunodeficiency 47 (ATP6AP1)
Immunodeficiency developmental delay and hypohomocysteinemia (NFE2L2)
Immunodeficiency syndrome 21 (GATA2)
Immunodysregulation polyendocrinopathy and enteropathy X-linked (FOXP3)
Impaired intellectual development and distinctive facial features with or without cardiac defects (MED13L)
IMPDH2-related disorder (IMPDH2)
Inclusion body myopathy type 2 (Nonaka myopathy) (GNE)
Infantile neuroaxonal dystrophy (PLA2G6)
infantile-onset STING-associated vasculopathy (SAVI) (TMEM173)
Intellectual developmental disorder
Intellectual developmental disorder 60 with seizures (AP2M1)
Intellectual developmental disorder autosomal dominant 1 (MBD5)
Intellectual developmental disorder autosomal dominant 10 (CACNG2)
Intellectual developmental disorder autosomal dominant 11 (EPB41L1)
Intellectual developmental disorder autosomal dominant 21 (CTCF)
Intellectual developmental disorder autosomal dominant 22 (ZBTB18)
Intellectual developmental disorder autosomal dominant 23 (SETD5)
Intellectual developmental disorder autosomal dominant 26 (AUTS2)
Intellectual developmental disorder autosomal dominant 3 (CDH15)
Intellectual developmental disorder autosomal dominant 30 (ZMYND11)
Intellectual developmental disorder autosomal dominant 34 (CERT1)
Intellectual developmental disorder autosomal dominant 39 (MYT1L)
Intellectual developmental disorder autosomal dominant 42 (GNB1)
Intellectual developmental disorder autosomal dominant 43 (HIVEP2)
Intellectual developmental disorder autosomal dominant 46 (KCNQ5)
Intellectual developmental disorder autosomal dominant 49 (TRIP12)
Intellectual developmental disorder autosomal dominant 5 (SYNGAP1)
Intellectual developmental disorder autosomal dominant 50 with behavioral abnormalities (NAA15)
Intellectual developmental disorder autosomal dominant 51 (KMT5B)
Intellectual developmental disorder autosomal dominant 52 (ASH1L)
Intellectual developmental disorder autosomal dominant 54 (CAMK2B)
Intellectual developmental disorder autosomal dominant 56 (CLTC)
Intellectual developmental disorder autosomal dominant 57 (TLK2)
Intellectual developmental disorder autosomal dominant 58 (SET)
Intellectual developmental disorder autosomal dominant 59 (CAMK2G)
Intellectual developmental disorder autosomal dominant 6 with or without seizures (GRIN2B)
Intellectual developmental disorder autosomal dominant 61 (MED13)
Intellectual developmental disorder autosomal dominant 63 with macrocephaly (TRIO)
Intellectual developmental disorder autosomal dominant 64 (ZNF292)
Intellectual developmental disorder autosomal dominant 68 (KMT2B)
Intellectual developmental disorder autosomal dominant 7 (DYRK1A)
Intellectual developmental disorder autosomal dominant 72 (SRRM2)
Intellectual developmental disorder autosomal dominant FRA12A type (DIP2B)
Intellectual developmental disorder with autism and macrocephaly (CHD8)
Intellectual developmental disorder with autism and speech delay (TBR1)
Intellectual developmental disorder with autistic features and language delay with or without seizures (TANC2)
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (PHF21A)
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (FBXO11)
Intellectual developmental disorder with dysmorphic facies and ptosis (BRPF1)
Intellectual developmental disorder with hypertelorism and distinctive facies (CCNK)
Intellectual developmental disorder with hypotonia and behavioral abnormalities (CDK8)
Intellectual developmental disorder with impaired language and dysmorphic facies (DDX6)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (NR4A2)
Intellectual developmental disorder with language impairment with or without autistic features (FOXP1)
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (SOX11)
Intellectual developmental disorder with nasal speech dysmorphic facies and variable skeletal anomalies (CNOT2)
Intellectual developmental disorder with ocular anomalies and distinctive facial features (MTSS2)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (RORA)
Intellectual developmental disorder with seizures and language delay (SETD1B)
Intellectual developmental disorder with speech delay autism and dysmorphic facies (CNOT3)
Intellectual developmental disorder X-linked 1 (IQSEC2)
Intellectual developmental disorder X-linked 100 (KIF4A)
Intellectual developmental disorder X-linked 101 (MID2)
Intellectual developmental disorder X-linked 103 (KLHL15)
Intellectual developmental disorder X-linked 104 (FRMPD4)
Intellectual developmental disorder X-linked 105 (USP27X)
Intellectual developmental disorder X-linked 106 (OGT)
Intellectual developmental disorder X-linked 107 (STEEP1)
Intellectual developmental disorder X-linked 108 (SLC9A7)
Intellectual developmental disorder X-linked 112 (ZMYM3)
Intellectual developmental disorder X-linked 41 (GDI1)
Intellectual developmental disorder X-linked 58 (TSPAN7)
Intellectual developmental disorder X-linked 63 (ACSL4)
Intellectual developmental disorder X-linked 96 (SYP)
Intellectual developmental disorder X-linked 98 (NEXMIF)
Intellectual developmental disorder X-linked 99 (USP9X)
Intellectual developmental disorder X-linked syndromic 32 (CLIC2)
Intellectual developmental disorder X-linked syndromic 33 (TAF1)
Intellectual developmental disorder X-linked syndromic 34 (NONO)
Intellectual developmental disorder X-linked syndromic Armfield type (FAM50A)
Intellectual developmental disorder X-linked syndromic Bain type (HNRNPH2)
Intellectual developmental disorder X-linked syndromic Christianson type (SLC9A6)
Intellectual developmental disorder X-linked syndromic Hackman-Di Donato type (NKAP)
Intellectual developmental disorder X-linked syndromic Houge type (CNKSR2)
Intellectual developmental disorder X-linked syndromic Nascimento type (UBE2A)
Intellectual developmental disorder X-linked syndromic Pilorge type (GLRA2)
Intellectual developmental disorder X-linked syndromic Snijders Blok type (DDX3X)
Intellectual developmental disorder X-linked syndromic Turner type (HUWE1)
Intellectual developmental disorder X-linked syndromic with pigmentary mosaicism and coarse facies (TFE3)
Intellectual developmental disorder X-linked syndromic Wu type (GRIA3)
Intellectual developmental disorder X-linked with isolated growth hormone deficiency (SOX3)
Intellectual developmental disorder, autosomal recessive 84 (SGSM3)
Intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) / Focal segmental glomerulosclerosis (FSGS5) (INF2)
Isovaleric Acidemia (IVD)
Jansen-de Vries syndrome (PPM1D)
Joubert syndrome (C2CD3)
Joubert syndrome / Senior-Loken Syndrome 6 (CEP290)
Joubert syndrome / short-rib thoracic dystrophy (SRTD) (CSPP1)
Joubert syndrome 9 (CC2D2A)
Joubert syndrome AHI1-related (AHI1)
Joubert syndrome ARL13B-related (ARL13B)
Junctional epidermolysis bullosa 2 (LAMA3)
Junctional epidermolysis bullosa LAMB3-related (LAMB3)
Junctional epidermolysis bullosa LAMC2-related (LAMC2)
Juvenile polyposis syndrome (BMPR1A)
Juvenile retinoschisis X-linked (RS1)
Kabuki syndrome 1 (KMT2D)
Kabuki syndrome 2 (KDM6A)
Kallmann syndrome (PROKR2)
KBG syndrome (ANKRD11)
KCNJ11-related hyperinsulinism (KCNJ11)
Keipert syndrome (GPC4)
Kenny-Caffey syndrome type 2 (FAM111A)
Keppen-Lubinsky syndrome (KCNJ6)
KINSSHIP syndrome (AFF3)
Kleefstra syndrome 1 (EHMT1)
Kleefstra syndrome 2 (KMT2C)
Klippel-Feil syndrome 1 / Microphthalmia 4 (GDF6)
Koolen-De Vries syndrome (KANSL1)
Kosaki overgrowth syndrome (PDGFRB)
Krabbe disease (GALC)
Kury-Isidor Syndrome (BAP1)
L1 syndrome (L1CAM)
Lacrimo-auriculo-dento-digital (LADD) syndrome (FGF10)
Lamb-Shaffer syndrome (SOX5)
Larsen syndrome (FLNB)
Late-onset retinal degeneration (C1QTNF5)
Lathosterolosis (SC5D)
Leber congenital amaurosis 1 / Cone-rod dystrophy 6 (GUCY2D)
Leber congenital amaurosis 5 (LCA5)
Leber congenital amaurosis 7 (CRX)
Leber congenital amaurosis type 13 (RDH12)
Legius syndrome (SPRED1)
Leigh syndrome SURF1-related (SURF1)
Leigh syndrome with Complex IV deficiency (LRPPRC)
Lenz-Majewski hyperostotic dwarfism (PTDSS1)
LEOPARD syndrome 1 (PTPN11)
Lesch-Nyhan syndrome (HPRT1)
Lessel-Kreienkamp syndrome (AGO2)
Lethal congenital contracture syndrome 1 (GLE1)
Lethal Encephalopathy due to defective mitochondrial peroxisomal fission 1 (DNM1L)
Leukodystrophy hypomyelinating 16 (TMEM106B)
Leukodystrophy hypomyelinating 19 transient infantile (TMEM63A)
Leukodystrophy hypomyelinating 6 (TUBB4A)
Leukoencephalopathy motor delay spasticity and dysarthria syndrome (EIF2AK1)
Leukoencephalopathy with vanishing white matter (EIF2B5)
LGR4-related disorder (LGR4)
Li-Ghorgani-Weisz-Hubshman syndrome (KAT8)
Li–Fraumeni syndrome (TP53)
Liebenberg syndrome / Congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly / Mandibular-Pelvic-Patellar syndrome (PITX1)
Limb-girdle muscular dystrophy 12 (ANO5)
Limb-girdle muscular dystrophy type 2A (CAPN3)
Limb-girdle muscular dystrophy type 2B (DYSF)
Limb-girdle muscular dystrophy type 2C (SGCG)
Limb-girdle muscular dystrophy type 2D (SGCA)
Limb-girdle muscular dystrophy type 2E (SGCB)
Limb-girdle muscular dystrophy type 2F (SGCD)
Linear skin defects with multiple congenital anomalies 1 (HCCS)
Linear skin defects with multiple congenital anomalies 2 (COX7B)
Lipoid congenital adrenal hyperplasia (STAR)
Lipoyltransferase 1 Deficiency (LIPT1)
Lissencephaly / Autosomal dominant Lateral temporal Lobe Epilepsy (ADLTE) (RELN)
Lissencephaly 1 (PAFAH1B1)
Lissencephaly 10 (CEP85L)
Lissencephaly 3 (TUBA1A)
Lissencephaly 9 with complex brainstem malformation (MACF1)
Lissencephaly with Cerebellar Hypoplasia 7 (CDK5)
Lissencephaly X-linked (DCX)
Liver failure acute infantile (TRMU)
Loeys-Dietz syndrome (LDS) (TGFB3)
Loeys-Dietz syndrome 6 (SMAD2)
Loeys–Dietz syndrome (SMAD3)
Loeys–Dietz syndrome 2 (TGFBR2)
Loeys–Dietz syndrome 4 / nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (TGFB2)
Long QT syndrome 14 (CALM1)
Long QT syndrome 2 (KCNH2)
Long QT syndrome 4 (ANK2)
Lower urinary tract obstruction (LUTO) (BNC2)
Lujan-Fryns syndrome (MED12)
Lujan-Fryns syndrome UPF3B-related (UPF3B)
Lung cancer predisposition (EGFR)
Luscan-Lumish syndrome (SETD2)
Lymphatic malformation 9 (CELSR1)
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus (FOXC2)
Lynch syndrome (EPCAM)
Lynch syndrome (MLH1)
Lynch syndrome (MLH3)
Lynch syndrome (MSH2)
Lynch syndrome (MSH3)
Lynch syndrome (MSH6)
Lynch syndrome (PMS2)
Lysinuric protein intolerance (SLC7A7)
Lysosomal acid lipase deficiency (LIPA)
Macrocephaly acquired with impaired intellectual development (NFIB)
Macular corneal dystrophy CHST6-related (CHST6)
Malignant fibrous histiocytoma (MFHAS1)
Mandibulofacial dysostosis Guion-Almeida type (EFTUD2)
MAP1B-related disorder (MAP1B)
Maple syrup urine disease type Ia (BCKDHA)
Maple syrup urine disease type Ib (BCKDHB)
Maple syrup urine disease type II (DBT)
Marbach-Schaaf neurodevelopmental syndrome (PRKAR1B)
Marfan syndrome (FBN1)
Marshall-Smith syndrome (NFIX)
maturity-onset diabetes of the young 3 (MODY3) (HNF1A)
Mayer-Rokitansky-Kuster-Hauser syndrome (WNT4)
McLeod syndrome (XK)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (ACADM)
medullary cystic kidney disease type 2 (MCKD2) / Tubulointerstitial kidney disease (ADTKD) (UMOD)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
megalencephalic leukoencephalopathy with subcortical cysts 2B (MLC2B) (HEPACAM)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
Megalocornea 1 X-linked (CHRDL1)
MEHMO syndrome (EIF2S3)
Meier-Gorlin syndrome 6 (GMNN)
Melanoma susceptibility (CDK4)
Melanoma–pancreatic cancer syndrome (CDKN2A)
Menkes disease (ATP7A)
Metachromatic leukodystrophy (ARSA)
Metachromatic leukodystrophy due to saposin-b deficiency (PSAP)
Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, Schmid type (COL10A1)
Methylmalonic aciduria and homocysteinemia cblX type (HCFC1)
Methylmalonic aciduria and homocystinuria cblC type (MMACHC)
Methylmalonic aciduria and homocystinuria cblD type (MMADHC)
Methylmalonic aciduria and homocystinuria cblF type (LMBRD1)
Methylmalonic aciduria and homocystinuria cblJ type (ABCD4)
Methylmalonic aciduria cblA type (MMAA)
Methylmalonic aciduria cblB type (MMAB)
Methylmalonic aciduria– methylmalonyl–CoA mutase deficiency (MMUT)
Methylmalonyl-CoA epimerase deficiency (MCEE)
Mevalonate kinase deficiency (MVK)
Microcephaly 18 primary (WDFY3)
Microcephaly 26 primary autosomal dominant (LMNB1)
Microcephaly with or without chorioretinopathy lymphedema or impaired intellectual development (KIF11)
microphthalmia
Microphthalmia isolated 3 (RAX)
Microphthalmia syndromic 13 (HMGB3)
Microphthalmia syndromic 2 (BCOR)
Microphthalmia syndromic 3 (SOX2)
Microphthalmia with or without coloboma (VSX2)
microphthalmia, anophthalmia, and coloboma (MAC) spectrum (RBP4)
Midface hypoplasia hearing impairment elliptocytosis and nephrocalcinosis (AMMECR1)
Miller syndrome (DHODH)
Mirror movements 4 (NTN1)
Mitochondrial complex I deficiency (Leigh syndrome) (NDUFAF5)
Mitochondrial complex I deficiency (Leigh syndrome) (NDUFS6)
Mitochondrial complex I deficiency nuclear type 12 (NDUFA1)
Mitochondrial complex I deficiency nuclear type 27 (MTFMT)
Mitochondrial complex I deficiency nuclear type 30 (NDUFB11)
Mitochondrial complex III deficiency (BCS1L)
Mitochondrial complex IV deficiency (SCO2)
Mitochondrial myopathy and sideroblastic anemia 1 (PUS1)
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease (TYMP)
MKS1-related ciliopathies (MKS1)
Mohr-Tranebjaerg syndrome (TIMM8A)
Mowat-Wilson syndrome (ZEB2)
Mucolipidosis II & III (GNPTAB)
Mucolipidosis III gamma (GNPTG)
Mucolipidosis IV (MCOLN1)
Mucopolysaccharidosis IIIA (Sanfilippo syndrome A) (SGSH)
Mucopolysaccharidosis IIID (Sanfilippo syndrome D) (GNS)
Mucopolysaccharidosis IVA (Morquio syndrome A) (GALNS)
Mucopolysaccharidosis type I (Hurler syndrome) (IDUA)
Mucopolysaccharidosis type II (Hunter syndrome) (IDS)
Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) (NAGLU)
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C) (HGSNAT)
Mucopolysaccharidosis type IX (HYAL1)
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) (ARSB)
Mucopolysaccharidosis type VII (GUSB)
Mullegama-Klein-Martinez syndrome (STAG2)
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
Multiple endocrine neoplasia type 1 (MEN1)
Multiple endocrine neoplasia type 2 (RET)
Multiple Endocrine Neoplasia type 4 (CDKN1B)
Multiple pterygium syndrome (CHRNG)
Multiple sulfatase deficiency (SUMF1)
Multiple synostoses syndrome 1 (NOG)
Multiple synostoses syndrome 3 (FGF9)
Muscle glycogenosis (PHKA1)
Muscular dystrophy LAMA2-related (LAMA2)
Muscular dystrophy limb-girdle autosomal dominant 2 (TNPO3)
Muscular dystrophy–dystroglycanopathy A7/C7 (CRPPA)
Myasthenic syndrome congenital 18 (SNAP25)
myelodysplasia
myelodysplasia, infection, restriction of growth, adrenal hypoplasia and insufficiency, genital abnormalities, and enteropathy (MIRAGE) syndrome (SAMD9)
Myeloid neoplasm predisposition (DDX41)
MYH9-related disorders (MYH9RD) and Nonsyndromic deafness (MYH9)
Myhre syndrome (SMAD4)
MYO7A-related disorders (MYO7A)
Myocardial infarction susceptibility (TNFSF4)
MYOCD-related disorder (MYOCD)
Myoclonic-atonic epilepsy (SLC6A1)
Myoclonus familial 1 (NOL3)
Myotubular myopathy X-linked (MTM1)
N-acetylglutamate synthase deficiency (NAGS)
Nabais Sa-de Vries syndrome type 1/2 (SPOP)
Nail–patella syndrome / Focal Segmental Glomerulosclerosis (FSGS) (LMX1B)
Nance-Horan syndrome (NHS)
NEDD4L-related disorder (NEDD4L)
Nemaline myopathy (NEB)
Nephrogenic diabetes insipidus (AQP2)
Nephrogenic diabetes insipidus 2 (AQP2)
Nephrolithiasis uric acid (ZNF365)
Nephrotic syndrome (ARHGAP24)
Nephrotic syndrome (DLC1)
Neuroblastoma susceptibility (ALK)
Neurodegeneration childhood-onset hypotonia respiratory insufficiency and brain imaging abnormalities (CLCN6)
Neurodegeneration childhood-onset with brain atrophy (UBTF)
Neurodegeneration with brain iron accumulation 5 (WDR45)
neurodevelopmental disease with brain abnormalities (YWHAE)
Neurodevelopmental disorder with absent language and variable seizures (WASF1)
neurodevelopmental disorder with ataxic gait
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (RAB11B)
Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia (TBCB)
Neurodevelopmental disorder with central hypotonia and dysmorphic facies (HDAC4)
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (HNRNPH1)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (BPTF)
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (ZMIZ1)
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (HNRNPR)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (SUPT16H)
Neurodevelopmental disorder with epilepsy cataracts feeding difficulties and delayed brain myelination (NACC1)
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (VAMP2)
Neurodevelopmental disorder with hypotonia and dysmorphic facies (GNB2)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (POLR2A)
Neurodevelopmental disorder with hypotonia dysmorphic facies and skeletal anomalies with or without seizures (TRPM3)
Neurodevelopmental disorder with hypotonia impaired language and dysmorphic features (CHAMP1)
Neurodevelopmental disorder with hypotonia impaired speech and behavioral abnormalities (GNAI1)
Neurodevelopmental disorder with hypotonia seizures and absent language (HECW2)
Neurodevelopmental disorder with hypotonia stereotypic hand movements and impaired language (MEF2C)
Neurodevelopmental disorder with infantile epileptic spasms (NCDN)
Neurodevelopmental disorder with language delay and behavioral abnormalities with or without seizures (AGO1)
Neurodevelopmental disorder with language impairment and behavioral abnormalities (GRIA2)
Neurodevelopmental disorder with motor abnormalities seizures and facial dysmorphism (PUM1)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (DLL1)
Neurodevelopmental disorder with or without anomalies of the brain eye or heart (RERE)
Neurodevelopmental disorder with or without autism or seizures (CUL3)
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NOVA2)
Neurodevelopmental disorder with or without early-onset generalized epilepsy (NBEA)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures (GRIN1)
Neurodevelopmental disorder with or without seizures and gait abnormalities (GRIA4)
Neurodevelopmental disorder with or without variable brain abnormalities (MAPK8IP3)
Neurodevelopmental disorder with regression abnormal movements loss of speech and seizures (IRF2BPL)
Neurodevelopmental disorder with seizures
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (CACNA1B)
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (PPFIBP1)
Neurodevelopmental disorder with variable motor and speech impairment (DHX30)
Neurodevelopmental jaw eye and digital syndrome (FBXW11)
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (ZMYM2)
Neurofibromatosis type 1 (NF1)
Neurofibromatosis type 2 (NF2)
Neurohypophyseal diabetes insipidus (AVP)
Neuromuscular disease and ocular or auditory anomalies with or without seizures (DHX16)
Neuronal ceroid lipofuscinosis (CLN3)
Neuronal ceroid lipofuscinosis 5 (CLN5)
Neuronal ceroid lipofuscinosis CLN6-related (CLN6)
Neuronal ceroid lipofuscinosis CLN8-related (CLN8)
Neuronal ceroid lipofuscinosis MFSD8-related (MFSD8)
Neuronal ceroid lipofuscinosis PPT1-related (PPT1)
Neuronal ceroid lipofuscinosis TPP1-related (TPP1)
Neuroocular syndrome (PRR12)
Neurooculocardiogenitourinary syndrome (WDR37)
Neutropenia severe congenital 8 (SRP54)
Nicolaides-Baraitser syndrome (SMARCA2)
Niemann-Pick disease type A/B (SMPD1)
Niemann-Pick disease type C1 (NPC1)
Niemann-Pick disease type C2 (NPC2)
Nijmegen breakage syndrome (NBN)
Nizon-Isidor syndrome (MED12L)
NLGN1-related disorder (NLGN1)
NLGN3-related disorder (NLGN3)
NLGN4X-related disorder (NLGN4X)
nocturnal frontal lobe epilepsy (PRIMA1)
None
Nonsyndromic hearing loss 1A (GJB2)
Nonsyndromic hearing loss 77 (LOXHD1)
Nonsyndromic hearing loss OTOF-related (OTOF)
nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) / Loeys–Dietz syndrome 1 / Multiple Self-Healing Squamous Epithelioma (MSSE) (TGFBR1)
Noonan syndrome (LZTR1)
Noonan syndrome (RAF1)
Noonan syndrome 11 (MRAS)
Noonan syndrome 12 (RRAS2)
Noonan syndrome 13 (MAPK1)
Noonan syndrome 4 (SOS1)
Noonan syndrome 6 (NRAS)
Noonan syndrome 8 (RIT1)
Noonan syndrome 9 (SOS2)
Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
Noonan syndrome-like with loose anagen hair 1 (SHOC2)
Noonan-like syndrome (A2ML1)
Norrie disease (NDP)
North Carolina Macular dystrophy (PRDM13)
NPHP1-related ciliopathies (NPHP1)
NR2E3-related retinal dystrophies (NR2E3)
NR2F2-related disorder (NR2F2)
O'Donnell-Luria-Rodan syndrome (KMT2E)
occult macular dystrophy (OCMD) (RP1L1)
OCRL-related disoders (OCRL)
Oculocutaneous albinism type 1A (TYR)
Oculocutaneous albinism type II (OCA2)
Oculocutaneous albinism types 1A and 1B (TYR)
Oculodentodigital dysplasia (GJA1)
Oculopharyngodistal myopathy 1 (LRP12)
Ogden syndrome (NAA10)
Oligodontia-colorectal cancer syndrome (AXIN2)
Omenn syndrome RAG1-related (RAG1)
Omenn syndrome RAG2-related (RAG2)
OPCML-related disorder (OPCML)
Opitz GBBB syndrome type I (MID1)
Optic atrophy syndrome (OPA3)
optic disc anomalies with retinal and/or macular dystrophy (ODRMD) (SIX6)
Ornithine transcarbamylase deficiency (OTC)
Orofacial cleft 11 (BMP4)
Orofaciodigital syndrome V (DDX59)
Osteogenesis imperfecta (COL1A1)
Osteogenesis imperfecta (COL1A2)
Osteogenesis imperfecta type V (IFITM5)
Osteogenesis imperfecta type VIII (P3H1)
Osteogenesis imperfecta type XIX (MBTPS2)
Osteopathia striata with cranial sclerosis (AMER1)
Osteopetrosis / Polycystic liver disease (LRP5)
Osteopetrosis 1 (TCIRG1)
Osteopetrosis 2 (CLCN7)
Osteoporosis (WNT1)
Otospondylomegaepiphyseal dysplasia / Fibrochondrogenesis 2 (COL11A2)
Ovarian cancer susceptibility (RAD51D)
Ovarian/breast cancer susceptibility (RAD51C)
P4HA2-related disorder (P4HA2)
Pancreatic cancer susceptibility (PALLD)
Pancreatitis (CTRC)
Pancreatitis susceptibility (SPINK1)
Pantothenate kinase-associated (PANK2)
PANX1-related disorder (PANX1)
Parietal foramina with cleidocranial dysplasia (MSX2)
Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
PAX5-related disorder (PAX5)
PCDH15-related sensory loss (PCDH15)
Pendred syndrome (SLC26A4)
Pentosuria (CRYL1)
PER2-related disorder (PER2)
Periventricular nodular heterotopia 6 (ERMARD)
Periventricular nodular heterotopia 8 (ARF1)
Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
Persistent Hyperplastic Primary Vitreous (ATOH7)
Persistent Mullerian duct syndrome type I (AMH)
Peutz–Jeghers syndrome (STK11)
Pfeiffer syndrome (FGFR1)
Phelan-McDermid syndrome (SHANK3)
Phenylalanine Hydroxylase Deficiency (Phenylketonuria) (PAH)
Phosphoglycerate dehydrogenase deficiency (PHGDH)
Phosphoglycerate kinase 1 deficiency (PGK1)
Piebaldism / Gastrointestinal stromal tumors (GIST) (KIT)
Pierpont syndrome (TBL1XR1)
Pigmented nodular adrenocortical disease primary 3 (PDE8B)
PIK3CA-related disorder (PIK3CA)
Pilarowski-Bjornsson syndrome (CHD1)
Pitt–Hopkins syndrome (TCF4)
Pituitary adenoma 1 (AIP)
Pituitary adenoma 2 GH-secreting (GPR101)
pituitary stalk interruption syndrome (ROBO1)
PLP1-related disorders (PLP1)
PNPLA6-related disorder (PNPLA6)
Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
POLG-related disorders (POLG)
POLR1C-related disorders (POLR1C)
Polycystic kidney disease PKHD1-related (PKHD1)
Polycystic kidney disease with or without polycystic liver disease (DNAJB11)
Polycystic kidney/liver disease 3 (GANAB)
Polycystic liver disease (PRKCSH)
Polycystic liver disease (SEC63)
Polydactyly (LMBR1)
POMGNT1 Alpha-dystroglycanopathies (POMGNT1)
Pompe disease (GAA)
POMT1 Alpha-dystroglycanopathies (POMT1)
POMT2 Alpha-dystroglycanopathies (POMT2)
Pontocerebellar hypoplasia type 1A (VRK1)
Pontocerebellar hypoplasia type 1B (EXOSC3)
Pontocerebellar hypoplasia type 2D (SEPSECS)
Pontocerebellar hypoplasia type 6 (RARS2)
Porokeratosis 8 disseminated superficial actinic type (SLC17A9)
Porokeratosis 9 multiple types (FDPS)
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy (MED17)
POT1 tumor predisposition syndrome (POT1)
PPAP (polymerase proofreading–associated polyposis) (POLE)
PPP2R5B-related Overgrowth Disorder (PPP2R5B)
PPP2R5C-related Overgrowth Disorder (PPP2R5C)
predisposition to nonsyndromic Wilms tumor (TRIM28)
Predisposition to PPAP (polymerase proofreading–associated polyposis) / Mandibular hypoplasia
predisposition to uveal melanoma (MBD4)
PRICKLE3-related disorder (PRICKLE3)
Primary aldosteronism
Primary aldosteronism, seizures, and neurologic abnormalities (CACNA1D)
Primary ciliary dyskinesia 19 (DNAAF11)
Primary ciliary dyskinesia 39 / Senior-Loken Syndrome 7 (FBN3)
Primary ciliary dyskinesia DNAH5-related (DNAH5)
Primary ciliary dyskinesia DNAI1-related (DNAI1)
Primary ciliary dyskinesia DNAI2-related (DNAI2)
Primary ciliary dyskinesia DNAL1-related (DNAL1)
Primary ciliary dyskinesia type 14 (CCDC39)
Primary ciliary dyskinesia type 17 (CCDC103)
Primary ciliary dyskinesia type 30 (CCDC151)
Primary congenital glaucoma (CYP1B1)
Primary hyperoxaluria type 1 (AGXT)
Primary hyperoxaluria type II (GRHPR)
Primary hyperoxaluria type III (HOGA1)
Primary microcephaly 1 recessive (MCPH1)
Primrose syndrome (ZBTB20)
PRKAR1A-related disorder (PRKAR1A)
progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (PEOA5) (RRM2B)
Progressive familial intrahepatic cholestasis (ABCB11)
Progressive pseudorheumatoid dysplasia (CCN6)
Propionic acidemia PCCA-related (PCCA)
Propionic acidemia PCCB-related (PCCB)
Prostate cancer susceptibility (HOXB13)
PRPS1-related disorders (PRPS1)
Pseudoachondroplasia (COMP)
Pseudohypoaldosteronism 2D (KLHL3)
Pseudohypoaldosteronism I (NR3C2)
Pseudohypoaldosteronism type 2B (WNK4)
Pseudohypoaldosteronism type 2C (WNK1)
Pseudohypoparathyroidism I (GNAS)
Pseudohypoparathyroidism Ib (STX16)
PTCHD1-related disorder (PTCHD1)
pulmonary arterial hypertension (SOX17)
Pycnodysostosis (CTSK)
Pyruvate carboxylase deficiency (PC)
Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
Pyruvate dehydrogenase E1-beta deficiency (PDHB)
Radio-Tartaglia syndrome (SPEN)
Rahman syndrome (H1-4)
RANBP2-related disorder (RANBP2)
RAPSN-associated acetylcholine receptor deficiency (RAPSN)
Rauch-Steindl syndrome (NSD2)
Raynaud-Claes syndrome (CLCN4)
RBFOX2-related Congenital Heart Disease (RBFOX2)
RELA-related disorder (RELA)
Renal cystic dysplasia (BICC1)
Renal cysts and diabetes syndrome (HNF1B)
renal hypodysplasia/aplasia (FGF20)
renal hypodysplasia/aplasia (FOXA2)
Renal hypodysplasia/aplasia 3 / Deafness 80 (GREB1L)
Renal tubular dysgenesis (ACE)
Renal tubular dysgenesis (AGTR1)
Renal-coloboma syndrome (PAX2)
Renpenning syndrome (PQBP1)
Retinal dystrophy early-onset with or without pituitary dysfunction (OTX2)
Retinal Macular Dystrophy / Stargardt-like Disease (PROM1)
Retinitis pigmentosa (CA4)
Retinitis pigmentosa (IMPDH1)
Retinitis pigmentosa (KLHL7)
Retinitis Pigmentosa (NR2E3)
Retinitis pigmentosa (NRL)
Retinitis pigmentosa (OR2W3)
Retinitis pigmentosa (PRPF3)
Retinitis pigmentosa (PRPF31)
Retinitis pigmentosa (PRPF4)
Retinitis pigmentosa (PRPF6)
Retinitis pigmentosa (ROM1)
Retinitis pigmentosa (RP1)
Retinitis pigmentosa (RP9)
Retinitis pigmentosa (SNRNP200)
Retinitis pigmentosa (TOPORS)
retinitis pigmentosa / cone-rod dystrophy (SEMA4A)
Retinitis pigmentosa / Congenital Stationary Night Blindness (RHO)
Retinitis pigmentosa / Leber Congenital Amaurosis / Macular dystrophy / Central Areolar Choroidal Dystrophy (CACD) / Stargardt disease (PRPH2)
Retinitis pigmentosa 13 (PRPF8)
Retinitis pigmentosa 25 (EYS)
Retinitis pigmentosa 26 (CERKL)
Retinitis pigmentosa 28 (FAM161A)
Retinitis pigmentosa 30 (FSCN2)
Retinitis pigmentosa 59 (DHDDS)
Retinitis Pigmentosa CNGA1-related (CNGA1)
Retinitis Pigmentosa CNGB1-related (CNGB1)
Retinitis pigmentosa IDH3B-related (IDH3B)
Retinitis pigmentosa PDE6A-related (PDE6A)
Retinoblastoma (DGKZ)
Retinoblastoma (RB1)
Rett syndrome (MECP2)
Rett syndrome congenital variant (FOXG1)
RGS6-related Cataracts (RGS6)
Rhizomelic chondrodysplasia punctata type 1 (PEX7)
Rhizomelic chondrodysplasia punctata type 3 (AGPS)
Ritscher-Schinzel syndrome 2 (CCDC22)
Ritscher-Schinzel syndrome 4 (DPYSL5)
Roberts syndrome (ESCO2)
Robinow syndrome (FZD2)
Robinow syndrome autosomal dominant 1 (WNT5A)
Robinow syndrome autosomal dominant 2 (DVL1)
Robinow syndrome autosomal dominant 3 (DVL3)
ROBO2-related disorder (ROBO2)
Rolandic epilepsy impaired intellectual development and speech dyspraxia (SRPX2)
ROR2-related Brachydactyly (ROR2)
Rothmund–Thomson syndrome / RAPADILINO syndrome / Baller-Gerold syndrome (RECQL4)
RPE65-related retinopathy (RPE65)
RPGRIP1L-related ciliopathies (RPGRIP1L)
Rubinstein-Taybi syndrome (CREBBP)
Rubinstein-Taybi syndrome 2 (EP300)
RYR2-related disorder (RYR2)
Saethre-Chotzen syndrome (TWIST1)
SALL4-related disorders (SALL4)
Sandhoff disease (HEXB)
SBBYSS syndrome (KAT6B)
Scalp-ear-nipple (SEN) syndrome (KCTD1)
Schaaf-Yang syndrome (MAGEL2)
Schimke immunoosseous dysplasia (SMARCAL1)
Schindler disease types 1 and 3 (NAGA)
Schinzel-Giedion midface retraction syndrome (SETBP1)
Schizencephaly (EMX2)
Schizencephaly (SHH)
Schizencephaly (SIX3)
Schizophrenia 6 / Adenocarcinoma predisposition (NRG1)
Schizophrenia and autism susceptibility (APOL2)
Schizophrenia and autism susceptibility (APOL4)
Schizophrenia and autism susceptibility (CHI3L1)
Schizophrenia and autism susceptibility (COMT)
Schizophrenia and autism susceptibility (DAOA)
Schizophrenia and autism susceptibility (DISC1)
Schizophrenia and autism susceptibility (HTR2A)
Schizophrenia and autism susceptibility (NRG1)
Schizophrenia and autism susceptibility (RTN4R)
Schizophrenia and autism susceptibility (SYN2)
Schuurs-Hoeijmakers syndrome (PACS1)
SCL17A3-related disorder (SLC17A3)
SCL9A9-related disorder (SLC9A9)
Seckel syndrome (ATRIP)
Segawa syndrome (TH)
Seizures benign neonatal 2 (KCNQ3)
Septo-optic dysplasia (HESX1)
Serrated polyposis syndrome (RNF43)
Severe Combined Immunodeficiency 49 (BCL11B)
Severe combined immunodeficiency JAK3-related (JAK3)
Severe combined immunodeficiency with sensitivity to ionizing radiation (DCLRE1C)
Severe congenital neutropenia 1 (ELANE)
Severe congenital neutropenia HAX1-related (HAX1)
Severe congenital neutropenia VPS45-related (VPS45)
SHANK2-related disorder (SHANK2)
Shashi-Pena syndrome (ASXL2)
Short branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (ACADSB)
Short stature
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (BMP2)
short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) (EXOSC2)
Short stature-micrognathia syndrome (ARCN1)
Short-chain acyl-coA dehydrogenase (SCAD) deficiency (ACADS)
Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1)
Shprintzen–Goldberg syndrome (SKI)
Shukla-Vernon syndrome (BCORL1)
Shwachman-Diamond syndrome 1 (SBDS)
Sialic acid storage disorder (SLC17A5)
Sifrim-Hitz-Weiss syndrome (CHD4)
Silver-Russell syndrome 3 (IGF2)
Silver-Russell syndrome 5 (HMGA2)
Simpson-Golabi-Behmel syndrome type 1 (GPC3)
Simpson-Golabi-Behmel syndrome type 2 (OFD1)
Simpson–Golabi–Behmel syndrome (GPC3)
Sjogren-Larsson syndrome (ALDH3A2)
SLC26A2-related disorders (SLC26A2)
SLC6A2-related disorder (SLC6A2)
SLCO1B3-related disorder (SLCO1B3)
SLITRK1-related disorder (SLITRK1)
Smith-Kingsmore syndrome (MTOR)
Smith-Lemli-Opitz syndrome (DHCR7)
Smith–Magenis syndrome (RAI1)
Snijders Blok-Campeau syndrome (CHD3)
Snijders Blok-Fisher syndrome (POU3F3)
Sorsby fundus dystrophy (TIMP3)
Sotos syndrome (NSD1)
Spastic paraplegia 10 autosomal dominant (KIF5A)
Spastic paraplegia 15 (ZFYVE26)
Spastic paraplegia 3A (ATL1)
Spastic paraplegia 4 (SPAST)
Spastic paraplegia 49 (TECPR2)
Spastic paraplegia 6 autosomal dominant (NIPA1)
Spastic Paraplegia 73 (CPT1C)
Spastic paraplegia type 7 (SPG7)
Spastic quadriplegic cerebral palsy / Intellectual disability with or without steroid resistant nephrotic syndrome (KANK1)
Spastic Quadriplegic Cerebral Palsy 3 (ADD3)
spastic tetraplegia
spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) (SLC1A4)
Speech-language disorder-1 (FOXP2)
SPG11-related Neuromuscular Disorders (SPG11)
Spinal Muscular Atrophy (SMN1)
Spinal muscular atrophy lower extremity-predominant 2A/B (BICD2)
Spinocerebellar ataxia 10 (ANO10)
Spinocerebellar ataxia 12 (PPP2R2B)
Spinocerebellar ataxia 13 (KCNC3)
Spinocerebellar ataxia 14 (PRKCG)
Spinocerebellar ataxia 21 (TMEM240)
Spinocerebellar ataxia 23 (PDYN)
Spinocerebellar ataxia 26 (EEF2)
Spinocerebellar ataxia 27A/B (FGF14)
Spinocerebellar ataxia 37 (DAB1)
Spinocerebellar ataxia 38 (SCA38) (ELOVL5)
Spinocerebellar ataxia 42 (CACNA1G)
spinocerebellar ataxia 45 (SCA45) (FAT2)
Spinocerebellar ataxia type 15 (SCA15) / Spinocerebellar ataxia type 29 (SCA29) / Gillespie syndrome (GLSP) (ITPR1)
Spinocerebellar ataxia type 28 (AFG3L2)
spinocerebellar ataxia with or without congenital anomalies of the kidneys and urinary tract (CAKUT) (FAT1)
Spinocerebellar ataxia X-linked 1 (ATP2B3)
split hand-split foot malformation / radial ray defects (FBXW4)
Split hand/foot malformation (BTRC)
split-hand/foot malformation (DYNC1I1)
Split-hand/foot malformation 1 (DLX5)
Split-hand/foot malformation 1 (DLX6)
Spondylocostal dysostosis (MESP2)
Spondylocostal dysostosis / Mayer-Rokitansky-Küster-Hauser syndrome / congenital anomalies of the kidney and urinary tract (CAKUT) (TBX6)
Spondylocostal dysostosis 7 (DMRT2)
Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia X-linked (BGN)
Spondyloepimetaphyseal dysplasia, aggrecan type / Kimberley type (ACAN)
spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) (RSPRY1)
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia, corner fracture type / Glomerulopathy with fibronectin deposits 2 (FN1)
SRY-related disorders of sex development (SRY)
SSX1-related disorder (SSX1)
STAG1-related syndromic intellectual disability (STAG1)
Stankiewicz-Isidor syndrome (PSMD12)
STAR syndrome (CCNQ)
Stargardt disease 1 (ABCA4)
Stargardt disease 3 / Spinocerebellar Ataxia 34 (SCA34) (ELOVL4)
Steel syndrome (COL27A1)
Stickler syndrome 1 / Achondrogenesis 2 (COL2A1)
Stickler syndrome 2 / Fibrochondrogenesis 1 (COL11A1)
Stolerman neurodevelopmental syndrome (KDM6B)
Structural brain anomalies with impaired intellectual development and craniosynostosis (ZIC1)
Stuve-Wiedemann syndrome (LIFR)
Supravalvular aortic stenosis (ELN)
Surfactant metabolism dysfunction pulmonary 3 (ABCA3)
surfactant protein C (SP-C) deficiency (SFTPC)
Sveinsson chorioretinal atrophy (SCRA) (TEAD1)
Symmetric circumferential skin creases congenital 2 (MAPRE2)
Synpolydactyly (HOXD13)
Synpolydactyly 3/3'4 associated with metacarpal and metatarsal synostoses (FBLN1)
Systemic primary carnitine deficiency (SLC22A5)
TAB2-related disorder (TAB2)
Takenouchi-Kosaki syndrome (CDC42)
TARP syndrome (RBM10)
Tay-Sachs disease (HEXA)
TBX18-related disorder (TBX18)
TBX2-related disorder (TBX2)
TCF7L2-related disorder (TCF7L2)
Teebi hypertelorism syndrome 1 (SPECC1L)
Temple-Baraitser syndrome (KCNH1)
TENM4-related disorder (TENM4)
Tenorio syndrome (RNF125)
TERT-related dyskeratosis congenita (DC) spectrum disorders (TERT)
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1 (H4C3)
Testicular anomalies with or without congenital heart disease (GATA4)
Tetrahydrobiopterin deficiency (PTS)
Tetrahydrobiopterin deficiency PCBD1-related (PCBD1)
Tetrahydrobiopterin deficiency QDPR-related (QDPR)
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (RAP1B)
Thrombocytopenia 2 (ANKRD26)
Thrombocytopenia 4 (CYCS)
Thrombocytopenia with possible leukemia predisposition (ETV6)
Thrombocytopenia-absent radius syndrome (RBM8A)
thrombomodulin-associated coagulopathy (TM-AC) / atypical hemolytic uremic syndrome (aHUS) (THBD)
Thyroid dyshormonogenesis IYD-related (IYD)
Thyroid dyshormonogenesis SLC5A5-related (SLC5A5)
Thyroid dyshormonogenesis TG-related (TG)
Thyroid dyshormonogenesis TPO-related (TPO)
TM4SF20-related disorder (TM4SF20)
TMEM216-related ciliopathies (TMEM216)
TMLHE-related disorder (TMLHE)
TNC-related disorder (TNC)
Tolchin-Le Caignec syndrome (SOX6)
Tonne-Kalscheuer syndrome (RLIM)
TOP2B-related disorder (TOP2B)
Townes-Brocks syndrome 1 (SALL1)
Treacher Collins syndrome (TCOF1)
Tricho-dento-osseous syndrome (DLX3)
Trichohepatoenteric syndrome (TTC37)
Trichothiodystrophy 5 nonphotosensitive (RNF113A)
Trifunctional protein deficiency (HADHA)
TRIM32-related disorders (TRIM32)
Trimethylaminuria (FMO3)
Trismus-pseudocamptodactyly syndrome (MYH8)
Tritanopia (OPN1SW)
TRPC6-related disorder (TRPC6)
TRPM7-related disorder (TRPM7)
TRPS1-related disorder (TRPS1)
TUBA8-related disorder (TUBA8)
TUBB1-related macrothrombocytopenia (TUBB1)
Tuberous sclerosis-1 (TSC1)
Tuberous sclerosis-2 (TSC2)
tubular aggregate myopathy 1 (TAM1) / Stormorken (STRMK) syndrome (STIM1)
Tubulointerstitial kidney disease (SEC61A1)
Tumor predisposition syndrome 4 (breast / prostate / colorectal cancer) (CHEK2)
Turnpenny-Fry syndrome (PCGF2)
Tylosis with esophageal cancer (RHBDF2)
Tyrosinemia type 1 (FAH)
Tyrosinemia type II (TAT)
USH1C-related disorders (USH1C)
Usher syndrome (MYO7A)
Usher syndrome type 1D (CDH23)
Usher syndrome type 2A (USH2A)
Usher syndrome type 2D (WHRN)
Usher syndrome type 3A (CLRN1)
Usher syndrome type IG (USH1G)
VACTERL-H syndrome (FANCB)
Van Esch-O'Driscoll syndrome (POLA1)
Velocardiofacial syndrome (TBX1)
ventricular septal defects (VSD) and tetralogy of Fallot (TOF) / Dilated cardiomyopathy (HAND2)
Ventriculomegaly with cystic kidney disease (CRB2)
Verheij syndrome (PUF60)
Ververi-Brady syndrome (QRICH1)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (ACADVL)
Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL)
Visceral Heterotaxy 4 (ACVR2B)
Vissers-Bodmer syndrome (CNOT1)
Vitamin D–dependent rickets type 1 (CYP27B1)
Vitreoretinopathy (CAPN5)
Von Hippel–Lindau syndrome (VHL)
Vulto-van Silfout-de Vries syndrome (DEAF1)
Waardenburg syndrome type 2a / predisposition to cutaneous malignant melanoma (MITF)
Waardenburg syndrome type 2E/4C (SOX10)
Wagner syndrome / Retinitis Pigmentosa (VCAN)
Waisman syndrome (RAB39B)
Warsaw breakage syndrome (DDX11)
WAS-related hematopoietic disorder (WAS)
Weaver syndrome (EZH2)
Weiss-Kruszka syndrome (ZNF462)
WHIM syndrome 1 (CXCR4)
White-Kernohan syndrome (DDB1)
White-Sutton syndrome (POGZ)
Wieacker-Wolff syndrome (ZC4H2)
Wiedemann-Steiner syndrome (KMT2A)
Wilms Tumor predisposition (REST)
Wilson disease (ATP7B)
Wilson-Turner syndrome (LAS1L)
Witteveen-Kolk syndrome (SIN3A)
WNT10A-related ectodermal dysplasias (WNT10A)
Wolcott-Rallison Syndrome (EIF2AK3)
Wolfram syndrome (WFS1)
X-linked Aarskog-Scott syndrome (FGD1)
X-linked Adrenoleukodystrophy (ABCD1)
X-linked Chondrodysplasia punctata (EBP)
X-linked epilepsy with variable learning disabilities (SYN1)
X-linked hearing loss POU3F4-related (POU3F4)
X-linked Hypophosphatemic rickets (PHEX)
X-linked Intellectual disability AP1S2-related (AP1S2)
X-linked intellectual disability ARX-related (ARX)
X-linked intellectual disability BRWD3-related (BRWD3)
X-linked intellectual disability CUL4B-related (CUL4B)
X-linked intellectual disability DLG3-related (DLG3)
X-linked intellectual disability FTSJ1-related (FTSJ1)
X-linked intellectual disability IL1RAPL1-related (IL1RAPL1)
X-linked intellectual disability KDM5C-related (KDM5C)
X-linked intellectual disability PAK3-related (PAK3)
X-linked intellectual disability Siderius type (PHF8)
X-linked Intellectual disability THOC2-related (THOC2)
X-linked intellectual disability ZDHHC9-related (ZDHHC9)
X-linked intellectual disability ZNF711-related (ZNF711)
X-linked intellectual disability- cerebellar hypoplasia syndrome (OPHN1)
X-linked Ocular albinism GPR143-related (GPR143)
X-linked Retinitis pigmentosa RP2-related (RP2)
X-linked Retinitis pigmentosa RPGR-related (RPGR)
X-linked severe combined immunodeficiency (IL2RG)
Xeroderma pigmentosum group A (XPA)
Xeroderma pigmentosum group B / Cockayne spectrum (ERCC3)
Xeroderma pigmentosum group C (XPC)
Xia-Gibbs syndrome (AHDC1)
XXX
ZCCHC8-related disorder (ZCCHC8)
Zellweger syndrome PEX1-related (PEX1)
Zellweger syndrome PEX10-related (PEX10)
Zellweger syndrome PEX12-related (PEX12)
Zellweger syndrome PEX2-related (PEX2)
Zellweger syndrome PEX6-related (PEX6)
ZFHX4-related disorder (ZFHX4)
ZFPM2-related disorder (ZFPM2)
Zimmermann-Laband syndrome 2 (ATP6V1B2)
Zimmermann-Laband syndrome 3 (KCNN3)
ZTTK syndrome (SON)
\Neurodevelopmental disorder with neonatal respiratory insufficiency hypotonia and feeding difficulties (PURA)
\Renal tubular acidosis with deafness (ATP6V1B1)

Filter out donors that have tested positive for chosen genetic conditions. If a condition does not appear on this list, our donors have not tested positive for it. For a complete list of conditions screened, please contact us, or view the full gene panel PDF included on each donor profile.

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Genetic Testing

Each of our donors are tested for an extensive list of genetic conditions. Find conditions donors are negative for.

This tool allows you to filter out conditions you don’t want your donor to be a carrier of. Please note that some donors may have been tested with different genetic panels, meaning a filtered gene may not have been assessed. As a result, a donor may still appear as a potential match even if he was not tested for that condition. For a complete list of conditions screened, please view the full gene panel PDF included on each donor profile. If you have any questions, feel free to contact us.

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1L23R-related disease (IL23R)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL)
3-ketothiolase deficiency (ACAT1)
3-Methylcrotonyl-CoA carboxylase 1 deficiency (3-MCC deficiency) (MCCC1)
3-Methylcrotonyl-CoA carboxylase 2 deficiency (3-MCC deficiency) (MCCC2)
3MC syndrome 1 (MASP1)
Abetalipoproteinemia (MTTP)
Achondroplasia (FGFR3)
Achromatopsia (CNGB3)
Acrodermatitis enteropathica (SLC39A4)
Acrodysostosis 2 with or without hormone resistance (PDE4D)
Acrofacial dysostosis (POLR1A)
Acrofacial dysostosis 1 Nager type (SF3B4)
Acromelic frontonasal dysostosis (ZSWIM6)
Acyl-CoA dehydrogenase-9 (ACAD9) deficiency (ACAD9)
Adams-Oliver syndrome / Leukoencephalopathy with brain calcifications / Isolated congenital heart defects with or without aortic valve disease (NOTCH1)
Adams-Oliver syndrome 1 (ARHGAP31)
Adams-Oliver syndrome 3 (RBPJ)
Adams-Oliver syndrome 6 (DLL4)
Addison's disease (CYP21A1)
Adenosine deaminase deficiency (ADA)
ADULT syndrome (TP63)
Agammaglobulinemia X-linked 1 (BTK)
Aicardi Goutieres syndrome 2 (RNASEH2B)
Aicardi-Goutieres syndrome (AGS) / Singleton-Merton syndrome (IFIH1)
Aicardi-Goutieres syndrome (SAMHD1)
Aicardi–Goutières syndrome 6 (ADAR)
Aicardi–Goutières syndrome; familial chilblain lupus (TREX1)
Alagille syndrome / Hajdu-Cheney syndrome (NOTCH2)
Alagille syndrome 1 (JAG1)
Albinism oculocutaneous type III (TYRP1)
Alexander disease (GFAP)
Alkaptonuria (HGD)
Allan-Herndon-Dudley syndrome (SLC16A2)
Alpha Thalassemia (HBA1)
Alpha Thalassemia (HBA2)
Alpha thalassemia X-linked intellectual disability syndrome (ATRX)
Alpha-1-Antitrypsin (A1AT) Deficiency (SERPINA1)
Alpha-Mannosidosis (MAN2B1)
Alport syndrome (COL4A3)
Alport syndrome (COL4A4)
Alport syndrome COL4A3-related (COL4A3)
Alport syndrome COL4A4-related (COL4A4)
Alport syndrome COL4A5-related (COL4A5)
Alstrom syndrome (ALMS1)
Alveolar capillary dysplasia (FOXF1)
Andermann syndrome (SLC12A6)
Andersen syndrome (KCNJ2)
Androgen insensitivity syndrome (AR)
Anemia congenital dyserythropoietic type IIIA (KIF23)
Anemia sideroblastic with ataxia (ABCB7)
Angelman syndrome (UBE3A)
Angioedema hereditary 7 (MYOF)
Aniridia (PAX6)
Aniridia 2 (Aniridia 2)
aortic valve disease / craniosynostosis / syndromic structural heart defects / radioulnar synostosis (RUS) (SMAD6)
Arboleda-Tham syndrome (KAT6A)
Arginase deficiency (ARG1)
Argininosuccinate lyase deficiency (ASL)
Aromatase deficiency (CYP19A1)
Arrhythmogenic right ventricular dysplasia 13 (CTNNA3)
Arthrogryposis cleft palate craniosynostosis and impaired intellectual development (PPP3CA)
Arthrogryposis intellectual disability and seizures (SLC35A3)
Asparagine synthetase deficiency (ASNS)
Aspartylglucosaminuria (AGA)
Ataxia with isolated vitamin E deficiency (TTPA)
ataxia-pancytopenia (AP) syndrome (SAMD9L)
Ataxia-telangiectasia (ATM)
Ataxia–telangiectasia–like disorder 1 (MRE11)
Atransferrinemia (TF)
Atrial septal defect 9 (GATA6)
Atrial septal defects / Hypertrophic cardiomyopathy (HCM) / Dilated cardiomyopathy (DCM) (MYH6)
Atrioventricular septal defect
Atrioventricular septal defect, partial, with heterotaxy syndrome (CRELD1)
atypical cerebral palsy (EPHA4)
Atypical Hemolytic Uremic Syndrome 1 (CFH)
Atypical Hemolytic Uremic Syndrome 3 (CFI)
Au-Kline syndrome (HNRNPK)
Autism spectrum disorder with or without Cerebral Palsy (AGAP1)
Autoimmune lymphoproliferative syndrome type IB (FASLG)
Autoimmune polyendocrinopathy syndrome type I (AIRE)
autosomal dominant neurodevelopmental disorder / Schizophrenia (NRXN1)
Autosomal Dominant Polycystic kidney disease (PKD2)
Autosomal Dominant Tubulointerstitial kidney disease (ADTKD) (REN)
Autosomal recessive congenital myotonia (CLCN1)
Autosomal recessive deafness (DFNB3) (MYO15A)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (SACS)
Axenfeld-Rieger syndrome (PITX2)
Axenfeld-Rieger syndrome type 3 (FOXC1)
Ayme-Gripp syndrome (MAF)
developmental and epileptic encephalopathy / Early infantile epileptic encephalopathy (SLC12A5)
hereditary papillary renal cell carcinoma (HPRCC) / Arthrogryposis of the upper limbs (MET)
hypophosphatemic nephrolithiasis/osteoporosis (SLC34A1)
hypoplastic left heart syndrome
TERC-related dyskeratosis congenita (DC) spectrum disorders (TERC)
Bainbridge-Ropers syndrome (ASXL3)
Baker-Gordon syndrome (SYT1)
Baraitser-Winter syndrome 1 (ACTB)
Baraitser-Winter syndrome 2 (ACTG1)
Bardet-Biedl syndrome type 1 (BBS1)
Bardet-Biedl syndrome type 10 (BBS10)
Bardet-Biedl syndrome type 12 (BBS12)
Bardet–Biedl syndrome 4 (BBS4)
Bardet–Biedl syndrome 5 (BBS5)
Bardet–Biedl syndrome 7 (BBS7)
Bardet–Biedl syndrome 9 (BBS9)
Bare lymphocyte syndrome type II (CIITA)
Bartter syndrome (BSND)
Bartter syndrome 3 (CLCNKB)
Bartter syndrome type 4b digenic (CLCNKA)
Bartter syndrome type 5 antenatal transient (MAGED2)
Basal ganglia calcification idiopathic 1 (SLC20A2)
Basal ganglia calcification idiopathic 5 (PDGFB)
Basal ganglia calcification idiopathic 6 (XPR1)
Basilicata-Akhtar syndrome (MSL3)
BBS2-related ciliopathies (BBS2)
Beckwith-Wiedemann syndrome (CDKN1C)
Bernard-Soulier syndrome type A1 (GP1BA)
Bernard-Soulier syndrome type C (GP9)
Bestrophinopathy / Retinitis Pigmentosa 50 (BEST1)
Bethlem myopathy (COL6A3)
Bilateral frontoparietal polymicrogyria (ADGRG1)
Biotin-responsive basal ganglia disease (SLC19A3)
Biotinidase deficiency (BTD)
Birk-Barel syndrome (KCNK9)
Birt-Hogg-Dubé (FLCN)
Bladder dysfunction
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT (CHRNA3)
Bloom syndrome (BLM)
Bohring-Opitz syndrome (ASXL1)
Borjeson-Forssman-Lehmann syndrome (PHF6)
Bosch-Boonstra-Schaaf optic atrophy syndrome (NR2F1)
Bosma arhinia microphthalmia syndrome (SMCHD1)
Brachycephaly trichomegaly and developmental delay (RPS23)
Brachydactyly
brachydactyly type A1 (BDA1) (IHH)
Brachydactyly type A1/A2/C (GDF5)
brachydactyly type E (BDE) with and without short stature (PTHLH)
Brachydactyly, type A1/A2 and D (BMPR1B)
Brain malformations with or without urinary tract defects (NFIA)
Brain small vessel disease 2 (COL4A2)
Brain small vessel disease with or without ocular anomalies (COL4A1)
Branchio-oto-renal syndrome (SIX1)
Branchio-oto-renal syndrome (SIX5)
Branchiooculofacial syndrome (TFAP2A)
Branchiootorenal syndrome 1 (EYA1)
Breast and Prostate Cancer Susceptibility (RAD51B)
Breast cancer susceptibility (BARD1)
Breast cancer susceptibility (PALB2)
Brooke–Spiegler syndrome (CYLD)
Brugada syndrome 3 (CACNA1C)
Brugada syndrome 8 (HCN4)
Brugada syndrome 9 (KCND3)
Brunner syndrome (MAOA)
Bryant-Li-Bhoj neurodevelopmental syndrome 1 (H3-3A)
Bryant-Li-Bhoj neurodevelopmental syndrome 2 (H3-3B)
Buratti-Harel syndrome (SIAH1)
Buschke-Ollendorff syndrome (LEMD3)
Butyrylcholinesterase deficiency (BCHE)
C syndrome (CD96)
C3 glomerulopathy (CFHR5)
C7 Deficiency (C7)
Campomelic dysplasia (SOX9)
Canavan disease (ASPA)
Cantú syndrome (ABCC9)
Capillary malformation-arteriovenous malformation 1 (RASA1)
CAPN10-related disorder (CAPN10)
CAPOS syndrome (ATP1A3)
Carbamoylphosphate synthetase I deficiency (CPS1)
Cardiac facial and digital anomalies with developmental delay (TRAF7)
Cardiofaciocutaneous syndrome (BRAF)
Cardiofaciocutaneous syndrome 2 (KRAS)
Cardiofaciocutaneous syndrome 3 (MAP2K1)
Cardiofaciocutaneous syndrome 4 (MAP2K2)
Cardiomyopathy dilated 1JJ (LAMA4)
Carnitine palmitoyltransferase IA deficiency (CPT1A)
Carnitine palmitoyltransferase II deficiency (CPT2)
Carnitine-acylcarnitine translocase deficiency (SLC25A20)
Carpenter syndrome (RAB23)
Cartilage-Hair Hypoplasia Anauxetic Dysplasia Spectrum Disorder (RMRP)
CASP10-related disorder (CASP10)
Cataract (HSF4)
Cataract (HTR2A)
Cataract (MIP)
Cataract 1 (GJA8)
Cataract 10 (CRYBA1)
Cataract 12 multiple types (BFSP2)
Cataract 14 (GJA3)
Cataract 16 / Myofibrillar Myopathy 2A/2B (CRYAB)
Cataract 17 (CRYBB1)
Cataract 2 (CRYGC)
Cataract 20 (CRYGS)
Cataract 23 (CRYBA4)
Cataract 3 (CRYBB2)
Cataract 31 (CHMP4B)
Cataract 34 / Anterior Segement Dysgenesis 2 (FOXE3)
Cataract 39 (CRYGB)
Cataract 4 (CRYGD)
Cataract 6 (EPHA2)
Cataract 9 (CRYAA)
Catecholaminergic polymorphic ventricular tachycardia (CASQ2)
Catecholaminergic polymorphic ventricular tachycardia (TRDN)
Caudal regression syndrome (VANGL1)
CEBALID syndrome (MN1)
Cenani-Lenz syndactyly syndrome (CLSS) / Congenital myasthenic syndrome (LRP4)
CEP290-related Ciliopathies (CEP290)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CAMTA1)
cerebral amyloid angiopathy (ITM2B)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (NOTCH3)
Cerebral cavernous malformations (CCM2)
Cerebral cavernous malformations-1 (KRIT1)
Cerebral cavernous malformations-3 (PDCD10)
Cerebrocostomandibular syndrome (SNRPB)
Cerebrotendinous xanthomatosis (CYP27A1)
Ceroid lipofuscinosis neuronal 4 (Kufs type) autosomal dominant (DNAJC5)
Char syndrome (TFAP2B)
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2O (DYNC1H1)
Charcot-Marie-Tooth disease GDAP1-related (GDAP1)
Charcot-Marie-Tooth disease SH3TC2-related (SH3TC2)
Charcot-Marie-Tooth disease type 2C (CMT2C) / Distal hereditary motor neuropathy type 8 (HMN8) / Scapuloperoneal spinal muscular atrophy (SPSMA) / Multiple TRPV4-related skeletal dysplasias (TRPV4)
Charcot-Marie-Tooth disease type 2D (GARS1)
Charcot-Marie-Tooth disease type 2Y (VCP)
Charcot-Marie-Tooth disease type 4B1 (MTMR2)
Charcot-Marie-Tooth disease type 4D (NDRG1)
Charcot-Marie-Tooth disease X-linked type 1 (GJB1)
Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
Charcot-Marie-Tooth disease, type 4J / Yunis-Varon syndrome (FIG4)
Charcot-Marie-Tooth type 2A (MFN2)
CHARGE syndrome (CHD7)
Chediak-Higashi syndrome (LYST)
CHILD syndrome (NSDHL)
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DYTOABG) (MECR)
Childhood-onset severe retinal dystrophy AIPL1-related (AIPL1)
Chilton-Okur-Chung neurodevelopmental syndrome (CDC42BPB)
CHIME syndrome (PIGL)
Chitayat syndrome (ERF)
Chondrodysplasia punctata type 1 X-linked (ARSL)
Chondrodysplasia with platyspondyly distinctive brachydactyly hydrocephaly and microphthalmia (HDAC6)
CHOPS syndrome (AFF4)
Choreoacanthocytosis (VPS13A)
Choreoathetosis hypothyroidism and neonatal respiratory distress (NKX2-1)
Choroideremia (CHM)
Chronic granulomatous disease (CYBA)
Chronic granulomatous disease 1 (NCF1)
Chronic granulomatous disease X-linked (CYBB)
chronic kidney disease
chronic kidney disease, seizures and hypothyroidism (SEMA3E)
Chung-Jansen syndrome (PHIP)
Ciliary dyskinesia primary 40 (DNAH9)
CIMDAG syndrome (VPS4A)
CINCA syndrome (NLRP3)
Citrin deficiency (SLC25A13)
Citrullinemia (ASS1)
cleft lip/palate-ectodermal dysplasia syndrome (NECTIN1)
Cleft palate cardiac defects and impaired intellectual development (MEIS2)
Cleft palate psychomotor retardation and distinctive facial features (KDM1A)
Cleidocranial dysplasia / metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (RUNX2)
Cockayne syndrome type A (ERCC8)
Coffin-Lowry syndrome (RPS6KA3)
Coffin-Siris syndrome 1 (ARID1B)
Coffin-Siris syndrome 10 (SOX4)
Coffin-Siris syndrome 11 (SMARCD1)
Coffin-Siris syndrome 12 (BICRA)
Coffin-Siris syndrome 2 (ARID1A)
Coffin-Siris syndrome 3 (SMARCB1)
Coffin-Siris syndrome 4 (SMARCA4)
Coffin-Siris syndrome 5 (SMARCE1)
Coffin-Siris syndrome 6 (ARID2)
Coffin-Siris syndrome 7 (DPF2)
Coffin-Siris syndrome 8 (SMARCC2)
Cognitive impairment with or without cerebellar ataxia (SCN8A)
Cohen syndrome (VPS13B)
Cohen-Gibson syndrome (EED)
Cole-Carpenter syndrome 1 (P4HB)
Coloboma ocular with or without hearing impairment cleft lip/palate and/or impaired intellectual development (YAP1)
Colon cancer predisposition / Diamond-Blackfan anemia (DBA) (RPS20)
Colorectal cancer susceptibility (BUB1B)
Colorectal cancer susceptibility (GALNT12)
Combined malonic and methylmalonic aciduria (ACSF3)
Combined oxidative phosphorylation deficiency 39 (GFM2)
Combined oxidative phosphorylation deficiency 6 (AIFM1)
Combined oxidative phosphorylation deficiency GFM1-related (GFM1)
Combined oxidative phosphorylation deficiency TSFM-related (TSFM)
Combined pituitary hormone deficiency 2 (PROP1)
Combined pituitary hormone deficiency 3 (LHX3)
Common Variable Immunodeficiency 3 (CD19)
Complex Camptosynpolydactyly (BHLHA9)
cone-rod dystrophy (CRD) / Retinitis pigmentosa (RP) / Bardet-Biedl symdrome (CFAP418)
Cone-rod dystrophy (PITPNM3)
Cone-rod dystrophy (RIMS1)
Cone-rod dystrophy 3/14 (GUCA1A)
Congenital Adrenal Hyperplasia (CYP21A2)
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1)
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
Congenital adrenal hypoplasia X-linked (NR0B1)
Congenital adrenal insufficiency (CYP11A1)
Congenital amegakaryocytic thrombocytopenia (MPL)
Congenital anomalies of kidney and urinary tract 1 (DSTYK)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss abnormal ears or developmental delay (PBX1)
congenital anomalies of the kidney and urinary tract (CAKUT) / Kallmann syndrome / syndromic ocular anomalies (SLIT2)
Congenital anomalies of the kidney and urinary tract (NRIP1)
Congenital Cataracts / Anterior Segment Mesenchymal Dysgenesis (PITX3)
congenital central hypoventilation syndrome (CCHS) (PHOX2B)
Congenital Disorder of Glycosylation type 1a (PMM2)
Congenital disorder of glycosylation type Ib (MPI)
Congenital disorder of glycosylation type Ic (ALG6)
Congenital disorder of glycosylation type Iim (SLC35A2)
Congenital disorder of glycosylation type Iir (ATP6AP2)
Congenital disorder of glycosylation type Iy (SSR4)
Congenital heart defects 5 (GATA5)
Congenital heart defects and ectodermal dysplasia (PRKD1)
Congenital heart defects and skeletal malformations syndrome (ABL1)
Congenital heart defects dysmorphic facial features and intellectual developmental disorder (CDK13)
congenital heart defects with
congenital heart defects with, or without, dilated cardiomyopathy (TBX20)
congenital heart disease / Evans syndrome (NFATC1)
Congenital hydrocephalus 1 (CCDC88C)
Congenital hypothyroidism DUOX2-related (DUOX2)
Congenital hypothyroidism DUOXA2-related (DUOXA2)
Congenital hypothyroidism TSHB-related (TSHB)
Congenital Ichthyosis (TGM1)
Congenital insensitivity to pain with anhidrosis (NTRK1)
Congenital lipodystrophy (BSCL2)
Congenital macrothrombocytopenia (ACTN1)
Congenital myasthenic syndrome (CHRNE)
Congenital nephrotic syndrome type 1 (NPHS1)
Congenital nephrotic syndrome type 2 (NPHS2)
Congenital secretory chloride diarrhea (SLC26A3)
Conotruncal heart malformations variable (NKX2-5)
conotruncal heart malformations (NKX2-6)
Convulsions familial infantile with paroxysmal choreoathetosis (PRRT2)
COPA syndrome (COPA)
Corneal endothelial dystrophy (SLC4A11)
Cornelia de Lange syndrome (RAD21)
Cornelia de Lange syndrome 1 (NIPBL)
Cornelia de Lange syndrome 2 (SMC1A)
Cornelia de Lange syndrome 3 (SMC3)
Cornelia de Lange syndrome 5 (HDAC8)
Cornelia de Lange–like syndrome 6 (BRD4)
Corpus callosum agenesis of with impaired intellectual development ocular coloboma and micrognathia (IGBP1)
Cortical dysplasia complex with other brain malformations 1 (TUBB3)
Cortical dysplasia complex with other brain malformations 3 (KIF2A)
Cortical dysplasia complex with other brain malformations 4 (TUBG1)
Cortical dysplasia complex with other brain malformations 5 (TUBB2A)
Cortical dysplasia complex with other brain malformations 7 (TUBB2B)
Corticosterone methyloxidase deficiency (CYP11B2)
Costeff syndrome (OPA3)
Costello syndrome (HRAS)
Cowden syndrome 1 (PTEN)
Cowden syndrome 4 (KLLN)
Cowden syndrome 6 (AKT1)
Craniofrontonasal dysplasia (EFNB1)
Craniometaphyseal dysplasia (ANKH)
craniosynostosis (EFNA4)
Craniosynostosis / Kallman syndrome (TCF12)
CRB1-related retinopathy (CRB1)
Creatine deficiency syndrome (SLC6A8)
Creutzfeldt-Jakob disease (PRNP)
Crigler-Najjar syndrome (UGT1A1)
Crouzon syndrome (FGFR2)
CTNNA1-related diffuse gastric cancer (CTNNA1)
CTNNB1-related disorder (CTNNB1)
Culler-Jones syndrome (GLI2)
Currarino syndrome (MNX1)
Cutis laxa 3 / Spastic Paraplegia 9A (ALDH18A1)
CYP2A6-related disorder (CYP2A6)
CYP2C9-related disorder (CYP2C9)
Cystic Fibrosis (CFTR)
Cystinosis (CTNS)
D-2-hydroxyglutaric aciduria 2 (IDH2)
D-bifunctional protein deficiency (HSD17B4)
Danon disease (LAMP2)
Darier disease (ATP2A2)
Deafness
Deafness DFNB7/11 (TMC1)
Deafness X-linked 7 (GPRASP2)
Deafness, autosomal dominant 1, with or without thrombocytopenia (DIAPH1)
den Hoed-de Boer-Voisin syndrome (SATB1)
Dent disease 1 (CLCN5)
Dentatorubral-pallidoluysian atrophy (ATN1)
Denys-Drash syndrome / Wilms tumor syndrome (WT1)
Desanto-Shinawi syndrome (WAC)
Desbuquois dysplasia (CANT1)
developmental and epileptic encephalopathy (RAB11A)
developmental and epileptic encephalopathy / Early infantile epileptic encephalopathy (NUS1)
developmental and epileptic encephalopathy / Early infantile epileptic encephalopathy (STXBP1)
Developmental and epileptic encephalopathy 100 (FBXO28)
Developmental and epileptic encephalopathy 109 (FZR1)
Developmental and epileptic encephalopathy 11 (SCN2A)
Developmental and epileptic encephalopathy 112 (KCNH5)
Developmental and epileptic encephalopathy 14 (KCNT1)
Developmental and epileptic encephalopathy 17 (GNAO1)
Developmental and epileptic encephalopathy 19 (GABRA1)
Developmental and epileptic encephalopathy 2 (CDKL5)
Developmental and epileptic encephalopathy 24 (HCN1)
Developmental and epileptic encephalopathy 26 (KCNB1)
Developmental and epileptic encephalopathy 28 / Spinocerebellar ataxia 12 (WWOX)
Developmental and epileptic encephalopathy 30 (SIK1)
Developmental and epileptic encephalopathy 31A (DNM1)
Developmental and epileptic encephalopathy 32 (KCNA2)
Developmental and epileptic encephalopathy 33 (EEF1A2)
Developmental and epileptic encephalopathy 36 (ALG13)
Developmental and epileptic encephalopathy 41 (SLC1A2)
Developmental and epileptic encephalopathy 42 (CACNA1A)
Developmental and epileptic encephalopathy 43 (GABRB3)
Developmental and epileptic encephalopathy 45 (GABRB1)
Developmental and epileptic encephalopathy 46 (GRIN2D)
Developmental and epileptic encephalopathy 47 (FGF12)
Developmental and epileptic encephalopathy 5 (SPTAN1)
Developmental and epileptic encephalopathy 56 (YWHAG)
Developmental and epileptic encephalopathy 57 (KCNT2)
Developmental and epileptic encephalopathy 58 (NTRK2)
Developmental and epileptic encephalopathy 59 (GABBR2)
Developmental and epileptic encephalopathy 62 (SCN3A)
Developmental and epileptic encephalopathy 64 (RHOBTB2)
Developmental and epileptic encephalopathy 65 (CYFIP2)
Developmental and epileptic encephalopathy 66 (PACS2)
Developmental and epileptic encephalopathy 67 (CUX2)
Developmental and epileptic encephalopathy 69 (CACNA1E)
Developmental and epileptic encephalopathy 7 (KCNQ2)
Developmental and epileptic encephalopathy 70 (PHACTR1)
Developmental and epileptic encephalopathy 72 (NEUROD2)
Developmental and epileptic encephalopathy 73 (RNF13)
Developmental and epileptic encephalopathy 74 (GABRG2)
Developmental and epileptic encephalopathy 78 (GABRA2)
Developmental and epileptic encephalopathy 79 (GABRA5)
Developmental and epileptic encephalopathy 8 (ARHGEF9)
Developmental and epileptic encephalopathy 87 (CDK19)
Developmental and epileptic encephalopathy 9 (PCDH19)
Developmental and epileptic encephalopathy 90 (FGF13)
Developmental and epileptic encephalopathy 92 (GABRB2)
Developmental and epileptic encephalopathy 94 (CHD2)
Developmental delay dysmorphic facies and brain anomalies (U2AF2)
Developmental delay hypotonia and impaired language (FBXW7)
Developmental delay impaired growth dysmorphic facies and axonal neuropathy (MORC2)
Developmental delay with or without dysmorphic facies and autism (TRRAP)
Developmental delay with or without intellectual impairment or behavioral abnormalities (TAOK1)
Developmental delay with variable intellectual disability and dysmorphic facies (JARID2)
Developmental delay with variable intellectual impairment and behavioral abnormalities (TCF20)
DFNB1 Non-syndromic Hearing Loss (GJB6)
Diabetes insipidus nephrogenic 1 (AVPR2)
Diamond Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
Diamond-Blackfan anemia 1 (RPS19)
Diamond-Blackfan anemia 11 (RPL26)
Diamond-Blackfan anemia 12 (RPL15)
Diamond-Blackfan anemia 5 (RPL35A)
Diamond-Blackfan anemia 7 (RPL11)
Diamond-Blackfan anemia 8 (RPS7)
Diamond–Blackfan anemia (RPL5)
Diamond–Blackfan anemia (RPS10)
Diamond–Blackfan anemia (RPS24)
Diamond–Blackfan anemia (RPS26)
Dias-Logan syndrome (BCL11A)
DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (DICER1)
Diencephalic-mesencephalic junction dysplasia syndrome 1 (PCDH12)
Diets-Jongmans syndrome (KDM3B)
Diffuse Hereditary Leukoencephalopathy with spheroids 1 (CSF1R)
DiGeorge-like syndrome (CRKL)
Dihydrolipoamide dehydrogenase deficiency (DLD)
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Dilated cardiomyopathy (CASZ1)
Disabling pansclerotic morphea of childhood (STAT4)
Distal arthrogryposis type 3 (PIEZO2)
distal renal tubular acidosis (dRTA) (SLC4A1)
DMD-related Dystrophinopathies (DMD)
Donnai–Barrow syndrome (LRP2)
DOPA-responsive dystonia (GCH1)
doughnut lesion of calvaria and bone fragility syndrome (SGMS2)
Dowling-Degos disease 2 (POFUT1)
Doyne honeycomb degeneration of retina with or without Open Angle Glaucoma (EFEMP1)
Dravet syndrome (SCN1A)
Duane retraction syndrome 3 (MAFB)
Dyschromatosis universalis hereditaria 3 (ABCB6)
Dyskeratosis congenita (DKC1)
Dyskeratosis congenita autosomal dominant 3 (TINF2)
Dyskeratosis Congenita type 4 (RTEL1)
Dyskeratosis congenita type 5 (RTEL1)
Dyskinesia with orofacial involvement (ADCY5)
Dystonia 23 (CIZ1)
Dystonia 24 (ANO3)
Dystonia-11 myoclonic (SGCE)
Dystrophic epidermolysis bullosa (COL7A1)
early infantile epileptic encephalopathy (DMXL2)
Early-onset global developmental delay and developmental and epileptic encephalopathy (KCND2)
Ectodermal dysplasia 14
Ectodermal dysplasia 14, hypohidrotic/hair/tooth/nail type (TSPEAR)
Ectodermal dysplasia with facial dysmorphism and acral ocular and brain anomalies (RHOA)
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome dermatosparaxis type (ADAMTS2)
Ehlers-Danlos syndrome with kyphoscoliosis PLOD1-related (PLOD1)
Ehlers-Danlos Syndrome, Vascular type (COL3A1)
Ehlers–Danlos-like syndrome due to tenascin-X deficiency (TNXB)
EIF4E-related disorder (EIF4E)
Emery-Dreifuss muscular dystrophy (EMD)
Emery-Dreifuss muscular dystrophy type 2 (EDMD2) / Limb-girdle muscular dystrophy type 1B (LGMD1B) / Dilated cardiomyopathy (DCM) (LMNA)
Encephalitis/encephalopathy mild with reversible myelin vacuolization (MYRF)
Encephalopathy familial with neuroserpin inclusion bodies (SERPINI1)
endothelial corneal dystrophy (ZNF143)
Endothelial dystrophy
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MIR184)
Epilepsy early-onset 2 with or without developmental delay (SETD1A)
Epilepsy early-onset 3 with or without developmental delay (ATP6V0C)
Epilepsy familial focal with variable foci 2 (NPRL2)
Epilepsy familial focal with variable foci 3 (NPRL3)
Epilepsy familial temporal lobe 1 (LGI1)
Epilepsy focal with speech disorder and with or without impaired intellectual development (GRIN2A)
Epilepsy idiopathic generalized 10 (GABRD)
Epilepsy juvenile absence susceptibility to 1 (EFHC1)
Epilepsy nocturnal frontal lobe 1 (CHRNA4)
Epilepsy nocturnal frontal lobe 3 (CHRNB2)
Epilepsy nocturnal frontal lobe type 4 (CHRNA2)
Epilepsy progressive myoclonic 11 (SEMA6B)
Epilepsy progressive myoclonic 7 (KCNC1)
Epilepsy X-linked 2 with or without impaired intellectual development and dysmorphic features (GABRA3)
Epiphyseal chondrodysplasia
Episodic ataxia type 6 (SLC1A3)
Episodic ataxia/myokymia syndrome (KCNA1)
Episodic pain syndrome familial 2 (SCN10A)
ERBB4-related disorder (ERBB4)
ERCC2-related disorders (ERCC2)
ERCC6-related disorders (ERCC6)
Ethylmalonic encephalopathy (ETHE1)
EVC-related bone growth disorders (EVC)
EVC2-related bone growth disorders (EVC2)
Exudative vitreoretinopathy 1 (FZD4)
Fabry disease (GLA)
Facial dysmorphism hypertrichosis epilepsy intellectual/developmental delay and gingival overgrowth syndrome (KCNK4)
Factor V Leiden (F5)
Factor VII deficiency (F7)
Factor XI deficiency (F11)
Familial Acute Myeloid Leukemia (CEBPA)
Familial adenomatous polyposis (APC)
Familial amyloidosis
Familial amyloidosis, Finnish type (GSN)
Familial Dysautonomia (ELP1)
Familial dysautonomia (IKBKAP)
Familial erythrocytosis 3 (EGLN1)
familial exudative vitreoretinopathy (FEVR) (TSPAN12)
Familial focal epilepsy with variable foci 1 (DEPDC5)
Familial hemiplegic migraine 2 / Alternating Hemiplegia of Childhood 1 / Developmental and epileptic encephalopaty 98 (ATP1A2)
Familial hyperaldosteronism
Familial hyperaldosteronism, type 3 (KCNJ5)
Familial hyperinsulinism (ABCC8)
Familial hypocalciuric hypercalcemia 1 (CASR)
Familial Mediterranean fever (MEFV)
familial platelet disorder with associated myeloid malignancy (RUNX1)
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (MIR204)
familial temporal lobe epilepsy (ETL1) (MICAL1)
familial visceral amyloidosis (LYZ)
Fanconi anemia group A (FANCA)
Fanconi anemia group C (FANCC)
Fanconi anemia group G (FANCG)
Fanconi renotubular syndrome 3 (EHHADH)
Fanconi–Bickel syndrome (SLC2A2)
Feingold syndrome 1 (MYCN)
FG syndrome 4 (CASK)
Fibrodysplasia ossificans progressiva (ACVR1)
Fibrosis of extraocular muscles congenital 1/3B (KIF21A)
FKRP Alpha-dystroglycanopathies (FKRP)
FKTN Alpha-dystroglycanopathies (FKTN)
Fliedner-Zweier syndrome (SCAF4)
Floating-Harbor syndrome (SRCAP)
Focal dermal hypoplasia (PORCN)
Focal Segmental Glomerulosclerorsis 1 (ACTN4)
Focal Segmental Glomerulosclerorsis 8 (ANLN)
Focal segmental glomerulosclerosis (PODXL)
focal segmental glomerulosclerosis (SYNPO)
Focal Segmental Glomerulosclerosis 3 (CD2AP)
Focal segmental glomerulosclerosis and neurodevelopmental syndrome (TRIM8)
Fontaine progeroid syndrome (SLC25A24)
Fragile XE syndrome (AFF2)
Fraser syndrome (GRIP1)
Friedreich ataxia (FXN)
Frontometaphyseal dysplasia 1 (FLNA)
Frontometaphyseal dysplasia 2 (MAP3K7)
frontonasal dysplasia / congenital anomalies of the kidney and urinary tract (CAKUT) / autism spectrum disorder (SIX2)
Frontotemporal dementia 2 (GRN)
Fumarase deficiency (FH)
G6PD deficiency (G6PD)
Gabriele-de Vries syndrome (YY1)
Galactokinase deficiency (GALK1)
Galactose epimerase deficiency (GALE)
Galactosemia (GALT)
Galloway-Mowat syndrome 2 X-linked (LAGE3)
GAND syndrome (GATAD2B)
Gastrointestinal stromal tumor (GIST)-plus syndrome (PDGFRA)
Gaucher disease (GBA)
Gaucher disease (GBA1)
generalized epilepsy and paroxysmal dyskinesia (GEPD) (KCNMA1)
generalized epilepsy with febrile seizures (SCN1B)
Generalized epilepsy with febrile seizures plus type 9 (STX1B)
genetic epilepsy with febrile seizures plus (GEFS+) / primary erythromelalgia / small fiber neuropathy (SFNP) / paroxysmal extreme pain disorder (PEXPD) (SCN9A)
Genitourinary and/or/brain malformation syndrome (PPP1R12A)
GIGYF2-related disorder (GIGYF2)
Gitelman syndrome (SLC12A3)
Glass syndrome (SATB2)
GLB1-related gangliosidoses (GLB1)
Global developmental delay absent or hypoplastic corpus callosum and dysmorphic facies (ZNF148)
Global developmental delay with or without impaired intellectual development (CUX1)
Global developmental delay with speech and behavioral abnormalities (TNRC6B)
glucose transporter type 1 deficiency syndrome (Glut1 DS) (SLC2A1)
Glutamate formiminotransferase deficiency (FTCD)
Glutaric aciduria IIA (ETFA)
Glutaric aciduria IIB (ETFB)
Glutaric aciduria IIC (ETFDH)
Glutaric aciduria type I (GCDH)
Glycerol kinase deficiency (GK)
Glycine encephalopathy (AMT)
Glycine encephalopathy GLDC-related (GLDC)
Glycogen storage disease IV (GBE1)
Glycogen storage disease type 1a (G6PC)
Glycogen storage disease type Ib (SLC37A4)
Glycogen storage disease type III (AGL)
Glycogen storage disease type IXa1/2 (PHKA2)
Glycogen storage disease type V (PYGM)
Glycogen storage disease VII (PFKM)
GNAQ-related disorder (GNAQ)
Gorlin syndrome / Congenital Ocular Motor Apraxia (COMA) (SUFU)
Gout with or without autism spectrum disorder (ABCG2)
GPD2-related disorder (GPD2)
Greig cephalopolysyndactyly syndrome (GLI3)
growth delay due to insulin-like growth factor I resistance / Craniosynostosis (IGF1R)
Growth retardation
Growth retardation, developmental delay, facial dysmorphism (FTO)
Guanidinoacetate methyltransferase deficiency (GAMT)
Gyrate atrophy of choroid and retina (OAT)
Hand-foot-genital syndrome / Guttmacher syndrome (HOXA13)
Hao-Fountain syndrome (USP7)
Hartnup disorder (SLC6A19)
HBB-related Hemoglobinopathies (HBB)
HCRT-related disorder (HCRT)
Helsmoortel-van der Aa syndrome (ADNP)
Hemochromatosis type 2A (HJV)
Hemochromatosis type 3 (TFR2)
Hemolytic anemia congenital X-linked (ATP11C)
Hemophagocytic lymphohistiocytosis familial 2 (PRF1)
Hemophilia A (F8)
Hemophilia B (F9)
Hepatocerebral mitochondrial DNA depletion syndrome MPV17-related (MPV17)
Hereditary Amyloidosis (APOA1)
Hereditary breast–ovarian cancer syndrome (BRCA1)
Hereditary breast–ovarian cancer syndrome (BRCA2)
Hereditary diffuse gastric cancer (CDH1)
Hereditary folate malabsorption (SLC46A1)
Hereditary fructose intolerance (ALDOB)
Hereditary Hemochromatosis type 1 (HFE)
Hereditary Leiomyomatosis and renal cell cancer (HLRCC) (FH)
Hereditary mixed polyposis syndrome (HMPS) (GREM1)
Hereditary Motor and Sensory Neuropathy type VIB (SLC25A46)
hereditary multiple osteochondromas (HMO) (EXT1)
hereditary multiple osteochondromas (HMO) (EXT2)
hereditary optic atrophy (OPA) / Optic atrophy plus syndrome (DOA+) / Mitochondrial DNA deletion syndrome (OPA1)
Hereditary Pancreatitis (CPA1)
Hereditary pancreatitis (PRSS1)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (SDHA)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (SDHB)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (SDHC)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (SDHD)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (TMEM127)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome / Neuroblastoma / Charcot-Marie-Tooth disease (CMT) (KIF1B)
hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome / Renal cancer and pituitary adenoma predisposition (MAX)
Hereditary paraganglioma–pheochromocytoma syndrome (PGL2) (SDHAF2)
Hereditary spastic paraplegia 30 (SPG30) / Complicated spastic paraplegia and intellectual disability 9 (ID9) (KIF1A)
Hereditary spastic paraplegia 39 (SPG39) / Boucher-Neuhauser syndrome (BNHS) / Oliver-McFarlane syndrome (OMCS) / Lawrence-Moon syndrome (LNMS) (PNPLA6)
hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) (TTR)
Hermansky-Pudlak syndrome 1 (HPS1)
Hermansky-Pudlak syndrome 3 (HPS3)
Heterotaxy / Holoprosencephaly (NODAL)
Heyn-Sproul-Jackson syndrome (DNMT3A)
Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
Hirschsprung disease cardiac defects and autonomic dysfunction (ECE1)
Hirschsprung disease with or without cardiac defects (GDNF)
Holocarboxylase synthetase deficiency (HLCS)
Holoprosencephaly (SHH)
Holoprosencephaly (SIX3)
Holoprosencephaly / Congenital heart disease
Holoprosencephaly / Congenital heart disease, including tetralogy of Fallot and heterotaxy (FOXH1)
Holoprosencephaly 10 (DISP1)
Holoprosencephaly 11 (CDON)
Holoprosencephaly 4 (TGIF1)
Holoprosencephaly 5 (ZIC2)
Holoprosencephaly 7 (PTCH1)
Holt–Oram syndrome (TBX5)
Homocystinuria (CBS)
Homocystinuria (MTHFR)
Homocystinuria due to cystathionine beta-synthase deficiency (CBS)
Homocystinuria-megaloblastic anemia cobalamin E type (MTRR)
Houge-Janssens syndrome 1 (PPP2R5D)
Houge-Janssens syndrome 2 (PPP2R1A)
Houge-Janssens syndrome 3 (PPP2CA)
HSD10 mitochondrial disease (HSD17B10)
HTR1A-related disorder (HTR1A)
Hydrolethalus syndrome (HYLS1)
Hyper IgM syndrome X-linked (CD40LG)
Hyper-IgE syndrome (STAT3)
Hyperekplexia 1 (GLRA1)
Hyperferritinemia-cataract syndrome (FTL)
Hypermethioninemia due to adenosine kinase deficiency (ADK)
Hypermethioninemia due to deficiency of S-adenosylhomocysteine hydrolase (AHCY)
Hyperornithinemia- hyperammonemia-homocitrullinemia syndrome (Triple H syndrome) (SLC25A15)
Hyperparathyroidism–jaw tumor syndrome (CDC73)
Hyperprolinemia type II (ALDH4A1)
Hypertension and brachydactyly syndrome (PDE3A)
Hypocalcemia 2 (GNA11)
Hypocalciuric hypercalcemia type III (AP2S1)
Hypogonadotropic hypogonadism (SPRY4)
Hypogonadotropic hypogonadism 19 with or without anosmia (DUSP6)
Hypogonadotropic hypogonadism 21 with anosmia (FLRT3)
Hypogonadotropic hypogonadism 6 with or without anosmia (FGF8)
Hypogonadotropic hypogonadism GNRHR-related (GNRHR)
Hypogonadotropic hypogonadism with or without anosmia (AXL)
hypogonadotropic hypogonadism with or without anosmia (FGF17)
hypogonadotropic hypogonadism with or without anosmia (HS6ST1)
hypogonadotropic hypogonadism with or without anosmia (IGSF10)
hypogonadotropic hypogonadism with or without anosmia (SEMA3A)
hypogonadotropic hypogonadism with or without anosmia (WDR11)
Hypohidrotic ectodermal dysplasia (EDA)
Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
hypokalemic periodic paralysis type 2 (HOKPP2) / hyperkalemic periodic paralysis (HYPP) / paramyotonia congenita (PMC) / potassium-aggravated myotonia / congenital myopathy (SCN4A)
Hypomagnesemia
Hypomagnesemia 2 renal (FXYD2)
Hypomagnesemia seizures and impaired intellectual development 2 (ATP1A1)
Hypomagnesemia, seizures, and impaired intellectual development 1 (CNNM2)
Hypomyelinating leukodystrophy 12 (VPS11)
Hypomyelinating leukodystrophy 13 (C11orf73)
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (DARS )
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (DARS1)
Hypoparathyroidism 4 (GCM2)
Hypoparathyroidism sensorineural deafness and renal dysplasia (GATA3)
Hypophosphatasia (ALPL)
hypophosphatemic nephrolithiasis and osteoporosis (SLC9A3R1)
Hypophosphatemic rickets (FGF23)
Hypothyroidism central and testicular enlargement (IGSF1)
Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia (PAX8)
Hypothyroidism congenital nongoitrous 6 (THRA)
Hypothyroidism congenital nongoitrous 8 (TBL1X)
Hypotonia ataxia and delayed development syndrome (EBF3)
Hypotonia ataxia developmental delay and tooth enamel defect syndrome (CTBP1)
Hypotrichosis-lymphedema-telangiectasia (SOX18)
Idiopathic Generalized Epilepsy 15 (RORB)
Idiopathic Generalized Epilepsy 17 (HCN2)
Idiopathic Generalized Epilepsy 6 (CACNA1H)
Idiopathic Generalized Epilepsy 9 (CACNB4)
Idiopathic hypogonadotropic hypogonadism (IHH) (SRA1)
IL10-related disease (IL10)
IL17F-related disease (IL17F)
Imagawa-Matsumoto syndrome (SUZ12)
Imerslund–Gräsbeck syndrome (AMN)
Immunodeficiency 47 (ATP6AP1)
Immunodeficiency developmental delay and hypohomocysteinemia (NFE2L2)
Immunodeficiency syndrome 21 (GATA2)
Immunodysregulation polyendocrinopathy and enteropathy X-linked (FOXP3)
Impaired intellectual development and distinctive facial features with or without cardiac defects (MED13L)
IMPDH2-related disorder (IMPDH2)
Inclusion body myopathy type 2 (Nonaka myopathy) (GNE)
Infantile neuroaxonal dystrophy (PLA2G6)
infantile-onset STING-associated vasculopathy (SAVI) (TMEM173)
Intellectual developmental disorder
Intellectual developmental disorder 60 with seizures (AP2M1)
Intellectual developmental disorder autosomal dominant 1 (MBD5)
Intellectual developmental disorder autosomal dominant 10 (CACNG2)
Intellectual developmental disorder autosomal dominant 11 (EPB41L1)
Intellectual developmental disorder autosomal dominant 21 (CTCF)
Intellectual developmental disorder autosomal dominant 22 (ZBTB18)
Intellectual developmental disorder autosomal dominant 23 (SETD5)
Intellectual developmental disorder autosomal dominant 26 (AUTS2)
Intellectual developmental disorder autosomal dominant 3 (CDH15)
Intellectual developmental disorder autosomal dominant 30 (ZMYND11)
Intellectual developmental disorder autosomal dominant 34 (CERT1)
Intellectual developmental disorder autosomal dominant 39 (MYT1L)
Intellectual developmental disorder autosomal dominant 42 (GNB1)
Intellectual developmental disorder autosomal dominant 43 (HIVEP2)
Intellectual developmental disorder autosomal dominant 46 (KCNQ5)
Intellectual developmental disorder autosomal dominant 49 (TRIP12)
Intellectual developmental disorder autosomal dominant 5 (SYNGAP1)
Intellectual developmental disorder autosomal dominant 50 with behavioral abnormalities (NAA15)
Intellectual developmental disorder autosomal dominant 51 (KMT5B)
Intellectual developmental disorder autosomal dominant 52 (ASH1L)
Intellectual developmental disorder autosomal dominant 54 (CAMK2B)
Intellectual developmental disorder autosomal dominant 56 (CLTC)
Intellectual developmental disorder autosomal dominant 57 (TLK2)
Intellectual developmental disorder autosomal dominant 58 (SET)
Intellectual developmental disorder autosomal dominant 59 (CAMK2G)
Intellectual developmental disorder autosomal dominant 6 with or without seizures (GRIN2B)
Intellectual developmental disorder autosomal dominant 61 (MED13)
Intellectual developmental disorder autosomal dominant 63 with macrocephaly (TRIO)
Intellectual developmental disorder autosomal dominant 64 (ZNF292)
Intellectual developmental disorder autosomal dominant 68 (KMT2B)
Intellectual developmental disorder autosomal dominant 7 (DYRK1A)
Intellectual developmental disorder autosomal dominant 72 (SRRM2)
Intellectual developmental disorder autosomal dominant FRA12A type (DIP2B)
Intellectual developmental disorder with autism and macrocephaly (CHD8)
Intellectual developmental disorder with autism and speech delay (TBR1)
Intellectual developmental disorder with autistic features and language delay with or without seizures (TANC2)
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (PHF21A)
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (FBXO11)
Intellectual developmental disorder with dysmorphic facies and ptosis (BRPF1)
Intellectual developmental disorder with hypertelorism and distinctive facies (CCNK)
Intellectual developmental disorder with hypotonia and behavioral abnormalities (CDK8)
Intellectual developmental disorder with impaired language and dysmorphic facies (DDX6)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (NR4A2)
Intellectual developmental disorder with language impairment with or without autistic features (FOXP1)
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (SOX11)
Intellectual developmental disorder with nasal speech dysmorphic facies and variable skeletal anomalies (CNOT2)
Intellectual developmental disorder with ocular anomalies and distinctive facial features (MTSS2)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (RORA)
Intellectual developmental disorder with seizures and language delay (SETD1B)
Intellectual developmental disorder with speech delay autism and dysmorphic facies (CNOT3)
Intellectual developmental disorder X-linked 1 (IQSEC2)
Intellectual developmental disorder X-linked 100 (KIF4A)
Intellectual developmental disorder X-linked 101 (MID2)
Intellectual developmental disorder X-linked 103 (KLHL15)
Intellectual developmental disorder X-linked 104 (FRMPD4)
Intellectual developmental disorder X-linked 105 (USP27X)
Intellectual developmental disorder X-linked 106 (OGT)
Intellectual developmental disorder X-linked 107 (STEEP1)
Intellectual developmental disorder X-linked 108 (SLC9A7)
Intellectual developmental disorder X-linked 112 (ZMYM3)
Intellectual developmental disorder X-linked 41 (GDI1)
Intellectual developmental disorder X-linked 58 (TSPAN7)
Intellectual developmental disorder X-linked 63 (ACSL4)
Intellectual developmental disorder X-linked 96 (SYP)
Intellectual developmental disorder X-linked 98 (NEXMIF)
Intellectual developmental disorder X-linked 99 (USP9X)
Intellectual developmental disorder X-linked syndromic 32 (CLIC2)
Intellectual developmental disorder X-linked syndromic 33 (TAF1)
Intellectual developmental disorder X-linked syndromic 34 (NONO)
Intellectual developmental disorder X-linked syndromic Armfield type (FAM50A)
Intellectual developmental disorder X-linked syndromic Bain type (HNRNPH2)
Intellectual developmental disorder X-linked syndromic Christianson type (SLC9A6)
Intellectual developmental disorder X-linked syndromic Hackman-Di Donato type (NKAP)
Intellectual developmental disorder X-linked syndromic Houge type (CNKSR2)
Intellectual developmental disorder X-linked syndromic Nascimento type (UBE2A)
Intellectual developmental disorder X-linked syndromic Pilorge type (GLRA2)
Intellectual developmental disorder X-linked syndromic Snijders Blok type (DDX3X)
Intellectual developmental disorder X-linked syndromic Turner type (HUWE1)
Intellectual developmental disorder X-linked syndromic with pigmentary mosaicism and coarse facies (TFE3)
Intellectual developmental disorder X-linked syndromic Wu type (GRIA3)
Intellectual developmental disorder X-linked with isolated growth hormone deficiency (SOX3)
Intellectual developmental disorder, autosomal recessive 84 (SGSM3)
Intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) / Focal segmental glomerulosclerosis (FSGS5) (INF2)
Isovaleric Acidemia (IVD)
Jansen-de Vries syndrome (PPM1D)
Joubert syndrome (C2CD3)
Joubert syndrome / Senior-Loken Syndrome 6 (CEP290)
Joubert syndrome / short-rib thoracic dystrophy (SRTD) (CSPP1)
Joubert syndrome 9 (CC2D2A)
Joubert syndrome AHI1-related (AHI1)
Joubert syndrome ARL13B-related (ARL13B)
Junctional epidermolysis bullosa 2 (LAMA3)
Junctional epidermolysis bullosa LAMB3-related (LAMB3)
Junctional epidermolysis bullosa LAMC2-related (LAMC2)
Juvenile polyposis syndrome (BMPR1A)
Juvenile retinoschisis X-linked (RS1)
Kabuki syndrome 1 (KMT2D)
Kabuki syndrome 2 (KDM6A)
Kallmann syndrome (PROKR2)
KBG syndrome (ANKRD11)
KCNJ11-related hyperinsulinism (KCNJ11)
Keipert syndrome (GPC4)
Kenny-Caffey syndrome type 2 (FAM111A)
Keppen-Lubinsky syndrome (KCNJ6)
KINSSHIP syndrome (AFF3)
Kleefstra syndrome 1 (EHMT1)
Kleefstra syndrome 2 (KMT2C)
Klippel-Feil syndrome 1 / Microphthalmia 4 (GDF6)
Koolen-De Vries syndrome (KANSL1)
Kosaki overgrowth syndrome (PDGFRB)
Krabbe disease (GALC)
Kury-Isidor Syndrome (BAP1)
L1 syndrome (L1CAM)
Lacrimo-auriculo-dento-digital (LADD) syndrome (FGF10)
Lamb-Shaffer syndrome (SOX5)
Larsen syndrome (FLNB)
Late-onset retinal degeneration (C1QTNF5)
Lathosterolosis (SC5D)
Leber congenital amaurosis 1 / Cone-rod dystrophy 6 (GUCY2D)
Leber congenital amaurosis 5 (LCA5)
Leber congenital amaurosis 7 (CRX)
Leber congenital amaurosis type 13 (RDH12)
Legius syndrome (SPRED1)
Leigh syndrome SURF1-related (SURF1)
Leigh syndrome with Complex IV deficiency (LRPPRC)
Lenz-Majewski hyperostotic dwarfism (PTDSS1)
LEOPARD syndrome 1 (PTPN11)
Lesch-Nyhan syndrome (HPRT1)
Lessel-Kreienkamp syndrome (AGO2)
Lethal congenital contracture syndrome 1 (GLE1)
Lethal Encephalopathy due to defective mitochondrial peroxisomal fission 1 (DNM1L)
Leukodystrophy hypomyelinating 16 (TMEM106B)
Leukodystrophy hypomyelinating 19 transient infantile (TMEM63A)
Leukodystrophy hypomyelinating 6 (TUBB4A)
Leukoencephalopathy motor delay spasticity and dysarthria syndrome (EIF2AK1)
Leukoencephalopathy with vanishing white matter (EIF2B5)
LGR4-related disorder (LGR4)
Li-Ghorgani-Weisz-Hubshman syndrome (KAT8)
Li–Fraumeni syndrome (TP53)
Liebenberg syndrome / Congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly / Mandibular-Pelvic-Patellar syndrome (PITX1)
Limb-girdle muscular dystrophy 12 (ANO5)
Limb-girdle muscular dystrophy type 2A (CAPN3)
Limb-girdle muscular dystrophy type 2B (DYSF)
Limb-girdle muscular dystrophy type 2C (SGCG)
Limb-girdle muscular dystrophy type 2D (SGCA)
Limb-girdle muscular dystrophy type 2E (SGCB)
Limb-girdle muscular dystrophy type 2F (SGCD)
Linear skin defects with multiple congenital anomalies 1 (HCCS)
Linear skin defects with multiple congenital anomalies 2 (COX7B)
Lipoid congenital adrenal hyperplasia (STAR)
Lipoyltransferase 1 Deficiency (LIPT1)
Lissencephaly / Autosomal dominant Lateral temporal Lobe Epilepsy (ADLTE) (RELN)
Lissencephaly 1 (PAFAH1B1)
Lissencephaly 10 (CEP85L)
Lissencephaly 3 (TUBA1A)
Lissencephaly 9 with complex brainstem malformation (MACF1)
Lissencephaly with Cerebellar Hypoplasia 7 (CDK5)
Lissencephaly X-linked (DCX)
Liver failure acute infantile (TRMU)
Loeys-Dietz syndrome (LDS) (TGFB3)
Loeys-Dietz syndrome 6 (SMAD2)
Loeys–Dietz syndrome (SMAD3)
Loeys–Dietz syndrome 2 (TGFBR2)
Loeys–Dietz syndrome 4 / nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (TGFB2)
Long QT syndrome 14 (CALM1)
Long QT syndrome 2 (KCNH2)
Long QT syndrome 4 (ANK2)
Lower urinary tract obstruction (LUTO) (BNC2)
Lujan-Fryns syndrome (MED12)
Lujan-Fryns syndrome UPF3B-related (UPF3B)
Lung cancer predisposition (EGFR)
Luscan-Lumish syndrome (SETD2)
Lymphatic malformation 9 (CELSR1)
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus (FOXC2)
Lynch syndrome (EPCAM)
Lynch syndrome (MLH1)
Lynch syndrome (MLH3)
Lynch syndrome (MSH2)
Lynch syndrome (MSH3)
Lynch syndrome (MSH6)
Lynch syndrome (PMS2)
Lysinuric protein intolerance (SLC7A7)
Lysosomal acid lipase deficiency (LIPA)
Macrocephaly acquired with impaired intellectual development (NFIB)
Macular corneal dystrophy CHST6-related (CHST6)
Malignant fibrous histiocytoma (MFHAS1)
Mandibulofacial dysostosis Guion-Almeida type (EFTUD2)
MAP1B-related disorder (MAP1B)
Maple syrup urine disease type Ia (BCKDHA)
Maple syrup urine disease type Ib (BCKDHB)
Maple syrup urine disease type II (DBT)
Marbach-Schaaf neurodevelopmental syndrome (PRKAR1B)
Marfan syndrome (FBN1)
Marshall-Smith syndrome (NFIX)
maturity-onset diabetes of the young 3 (MODY3) (HNF1A)
Mayer-Rokitansky-Kuster-Hauser syndrome (WNT4)
McLeod syndrome (XK)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (ACADM)
medullary cystic kidney disease type 2 (MCKD2) / Tubulointerstitial kidney disease (ADTKD) (UMOD)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
megalencephalic leukoencephalopathy with subcortical cysts 2B (MLC2B) (HEPACAM)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
Megalocornea 1 X-linked (CHRDL1)
MEHMO syndrome (EIF2S3)
Meier-Gorlin syndrome 6 (GMNN)
Melanoma susceptibility (CDK4)
Melanoma–pancreatic cancer syndrome (CDKN2A)
Menkes disease (ATP7A)
Metachromatic leukodystrophy (ARSA)
Metachromatic leukodystrophy due to saposin-b deficiency (PSAP)
Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, Schmid type (COL10A1)
Methylmalonic aciduria and homocysteinemia cblX type (HCFC1)
Methylmalonic aciduria and homocystinuria cblC type (MMACHC)
Methylmalonic aciduria and homocystinuria cblD type (MMADHC)
Methylmalonic aciduria and homocystinuria cblF type (LMBRD1)
Methylmalonic aciduria and homocystinuria cblJ type (ABCD4)
Methylmalonic aciduria cblA type (MMAA)
Methylmalonic aciduria cblB type (MMAB)
Methylmalonic aciduria– methylmalonyl–CoA mutase deficiency (MMUT)
Methylmalonyl-CoA epimerase deficiency (MCEE)
Mevalonate kinase deficiency (MVK)
Microcephaly 18 primary (WDFY3)
Microcephaly 26 primary autosomal dominant (LMNB1)
Microcephaly with or without chorioretinopathy lymphedema or impaired intellectual development (KIF11)
microphthalmia
Microphthalmia isolated 3 (RAX)
Microphthalmia syndromic 13 (HMGB3)
Microphthalmia syndromic 2 (BCOR)
Microphthalmia syndromic 3 (SOX2)
Microphthalmia with or without coloboma (VSX2)
microphthalmia, anophthalmia, and coloboma (MAC) spectrum (RBP4)
Midface hypoplasia hearing impairment elliptocytosis and nephrocalcinosis (AMMECR1)
Miller syndrome (DHODH)
Mirror movements 4 (NTN1)
Mitochondrial complex I deficiency (Leigh syndrome) (NDUFAF5)
Mitochondrial complex I deficiency (Leigh syndrome) (NDUFS6)
Mitochondrial complex I deficiency nuclear type 12 (NDUFA1)
Mitochondrial complex I deficiency nuclear type 27 (MTFMT)
Mitochondrial complex I deficiency nuclear type 30 (NDUFB11)
Mitochondrial complex III deficiency (BCS1L)
Mitochondrial complex IV deficiency (SCO2)
Mitochondrial myopathy and sideroblastic anemia 1 (PUS1)
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease (TYMP)
MKS1-related ciliopathies (MKS1)
Mohr-Tranebjaerg syndrome (TIMM8A)
Mowat-Wilson syndrome (ZEB2)
Mucolipidosis II & III (GNPTAB)
Mucolipidosis III gamma (GNPTG)
Mucolipidosis IV (MCOLN1)
Mucopolysaccharidosis IIIA (Sanfilippo syndrome A) (SGSH)
Mucopolysaccharidosis IIID (Sanfilippo syndrome D) (GNS)
Mucopolysaccharidosis IVA (Morquio syndrome A) (GALNS)
Mucopolysaccharidosis type I (Hurler syndrome) (IDUA)
Mucopolysaccharidosis type II (Hunter syndrome) (IDS)
Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) (NAGLU)
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C) (HGSNAT)
Mucopolysaccharidosis type IX (HYAL1)
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) (ARSB)
Mucopolysaccharidosis type VII (GUSB)
Mullegama-Klein-Martinez syndrome (STAG2)
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
Multiple endocrine neoplasia type 1 (MEN1)
Multiple endocrine neoplasia type 2 (RET)
Multiple Endocrine Neoplasia type 4 (CDKN1B)
Multiple pterygium syndrome (CHRNG)
Multiple sulfatase deficiency (SUMF1)
Multiple synostoses syndrome 1 (NOG)
Multiple synostoses syndrome 3 (FGF9)
Muscle glycogenosis (PHKA1)
Muscular dystrophy LAMA2-related (LAMA2)
Muscular dystrophy limb-girdle autosomal dominant 2 (TNPO3)
Muscular dystrophy–dystroglycanopathy A7/C7 (CRPPA)
Myasthenic syndrome congenital 18 (SNAP25)
myelodysplasia
myelodysplasia, infection, restriction of growth, adrenal hypoplasia and insufficiency, genital abnormalities, and enteropathy (MIRAGE) syndrome (SAMD9)
Myeloid neoplasm predisposition (DDX41)
MYH9-related disorders (MYH9RD) and Nonsyndromic deafness (MYH9)
Myhre syndrome (SMAD4)
MYO7A-related disorders (MYO7A)
Myocardial infarction susceptibility (TNFSF4)
MYOCD-related disorder (MYOCD)
Myoclonic-atonic epilepsy (SLC6A1)
Myoclonus familial 1 (NOL3)
Myotubular myopathy X-linked (MTM1)
N-acetylglutamate synthase deficiency (NAGS)
Nabais Sa-de Vries syndrome type 1/2 (SPOP)
Nail–patella syndrome / Focal Segmental Glomerulosclerosis (FSGS) (LMX1B)
Nance-Horan syndrome (NHS)
NEDD4L-related disorder (NEDD4L)
Nemaline myopathy (NEB)
Nephrogenic diabetes insipidus (AQP2)
Nephrogenic diabetes insipidus 2 (AQP2)
Nephrolithiasis uric acid (ZNF365)
Nephrotic syndrome (ARHGAP24)
Nephrotic syndrome (DLC1)
Neuroblastoma susceptibility (ALK)
Neurodegeneration childhood-onset hypotonia respiratory insufficiency and brain imaging abnormalities (CLCN6)
Neurodegeneration childhood-onset with brain atrophy (UBTF)
Neurodegeneration with brain iron accumulation 5 (WDR45)
neurodevelopmental disease with brain abnormalities (YWHAE)
Neurodevelopmental disorder with absent language and variable seizures (WASF1)
neurodevelopmental disorder with ataxic gait
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (RAB11B)
Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia (TBCB)
Neurodevelopmental disorder with central hypotonia and dysmorphic facies (HDAC4)
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (HNRNPH1)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (BPTF)
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (ZMIZ1)
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (HNRNPR)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (SUPT16H)
Neurodevelopmental disorder with epilepsy cataracts feeding difficulties and delayed brain myelination (NACC1)
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (VAMP2)
Neurodevelopmental disorder with hypotonia and dysmorphic facies (GNB2)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (POLR2A)
Neurodevelopmental disorder with hypotonia dysmorphic facies and skeletal anomalies with or without seizures (TRPM3)
Neurodevelopmental disorder with hypotonia impaired language and dysmorphic features (CHAMP1)
Neurodevelopmental disorder with hypotonia impaired speech and behavioral abnormalities (GNAI1)
Neurodevelopmental disorder with hypotonia seizures and absent language (HECW2)
Neurodevelopmental disorder with hypotonia stereotypic hand movements and impaired language (MEF2C)
Neurodevelopmental disorder with infantile epileptic spasms (NCDN)
Neurodevelopmental disorder with language delay and behavioral abnormalities with or without seizures (AGO1)
Neurodevelopmental disorder with language impairment and behavioral abnormalities (GRIA2)
Neurodevelopmental disorder with motor abnormalities seizures and facial dysmorphism (PUM1)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (DLL1)
Neurodevelopmental disorder with or without anomalies of the brain eye or heart (RERE)
Neurodevelopmental disorder with or without autism or seizures (CUL3)
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NOVA2)
Neurodevelopmental disorder with or without early-onset generalized epilepsy (NBEA)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures (GRIN1)
Neurodevelopmental disorder with or without seizures and gait abnormalities (GRIA4)
Neurodevelopmental disorder with or without variable brain abnormalities (MAPK8IP3)
Neurodevelopmental disorder with regression abnormal movements loss of speech and seizures (IRF2BPL)
Neurodevelopmental disorder with seizures
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (CACNA1B)
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (PPFIBP1)
Neurodevelopmental disorder with variable motor and speech impairment (DHX30)
Neurodevelopmental jaw eye and digital syndrome (FBXW11)
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (ZMYM2)
Neurofibromatosis type 1 (NF1)
Neurofibromatosis type 2 (NF2)
Neurohypophyseal diabetes insipidus (AVP)
Neuromuscular disease and ocular or auditory anomalies with or without seizures (DHX16)
Neuronal ceroid lipofuscinosis (CLN3)
Neuronal ceroid lipofuscinosis 5 (CLN5)
Neuronal ceroid lipofuscinosis CLN6-related (CLN6)
Neuronal ceroid lipofuscinosis CLN8-related (CLN8)
Neuronal ceroid lipofuscinosis MFSD8-related (MFSD8)
Neuronal ceroid lipofuscinosis PPT1-related (PPT1)
Neuronal ceroid lipofuscinosis TPP1-related (TPP1)
Neuroocular syndrome (PRR12)
Neurooculocardiogenitourinary syndrome (WDR37)
Neutropenia severe congenital 8 (SRP54)
Nicolaides-Baraitser syndrome (SMARCA2)
Niemann-Pick disease type A/B (SMPD1)
Niemann-Pick disease type C1 (NPC1)
Niemann-Pick disease type C2 (NPC2)
Nijmegen breakage syndrome (NBN)
Nizon-Isidor syndrome (MED12L)
NLGN1-related disorder (NLGN1)
NLGN3-related disorder (NLGN3)
NLGN4X-related disorder (NLGN4X)
nocturnal frontal lobe epilepsy (PRIMA1)
None
Nonsyndromic hearing loss 1A (GJB2)
Nonsyndromic hearing loss 77 (LOXHD1)
Nonsyndromic hearing loss OTOF-related (OTOF)
nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) / Loeys–Dietz syndrome 1 / Multiple Self-Healing Squamous Epithelioma (MSSE) (TGFBR1)
Noonan syndrome (LZTR1)
Noonan syndrome (RAF1)
Noonan syndrome 11 (MRAS)
Noonan syndrome 12 (RRAS2)
Noonan syndrome 13 (MAPK1)
Noonan syndrome 4 (SOS1)
Noonan syndrome 6 (NRAS)
Noonan syndrome 8 (RIT1)
Noonan syndrome 9 (SOS2)
Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
Noonan syndrome-like with loose anagen hair 1 (SHOC2)
Noonan-like syndrome (A2ML1)
Norrie disease (NDP)
North Carolina Macular dystrophy (PRDM13)
NPHP1-related ciliopathies (NPHP1)
NR2E3-related retinal dystrophies (NR2E3)
NR2F2-related disorder (NR2F2)
O'Donnell-Luria-Rodan syndrome (KMT2E)
occult macular dystrophy (OCMD) (RP1L1)
OCRL-related disoders (OCRL)
Oculocutaneous albinism type 1A (TYR)
Oculocutaneous albinism type II (OCA2)
Oculocutaneous albinism types 1A and 1B (TYR)
Oculodentodigital dysplasia (GJA1)
Oculopharyngodistal myopathy 1 (LRP12)
Ogden syndrome (NAA10)
Oligodontia-colorectal cancer syndrome (AXIN2)
Omenn syndrome RAG1-related (RAG1)
Omenn syndrome RAG2-related (RAG2)
OPCML-related disorder (OPCML)
Opitz GBBB syndrome type I (MID1)
Optic atrophy syndrome (OPA3)
optic disc anomalies with retinal and/or macular dystrophy (ODRMD) (SIX6)
Ornithine transcarbamylase deficiency (OTC)
Orofacial cleft 11 (BMP4)
Orofaciodigital syndrome V (DDX59)
Osteogenesis imperfecta (COL1A1)
Osteogenesis imperfecta (COL1A2)
Osteogenesis imperfecta type V (IFITM5)
Osteogenesis imperfecta type VIII (P3H1)
Osteogenesis imperfecta type XIX (MBTPS2)
Osteopathia striata with cranial sclerosis (AMER1)
Osteopetrosis / Polycystic liver disease (LRP5)
Osteopetrosis 1 (TCIRG1)
Osteopetrosis 2 (CLCN7)
Osteoporosis (WNT1)
Otospondylomegaepiphyseal dysplasia / Fibrochondrogenesis 2 (COL11A2)
Ovarian cancer susceptibility (RAD51D)
Ovarian/breast cancer susceptibility (RAD51C)
P4HA2-related disorder (P4HA2)
Pancreatic cancer susceptibility (PALLD)
Pancreatitis (CTRC)
Pancreatitis susceptibility (SPINK1)
Pantothenate kinase-associated (PANK2)
PANX1-related disorder (PANX1)
Parietal foramina with cleidocranial dysplasia (MSX2)
Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
PAX5-related disorder (PAX5)
PCDH15-related sensory loss (PCDH15)
Pendred syndrome (SLC26A4)
Pentosuria (CRYL1)
PER2-related disorder (PER2)
Periventricular nodular heterotopia 6 (ERMARD)
Periventricular nodular heterotopia 8 (ARF1)
Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
Persistent Hyperplastic Primary Vitreous (ATOH7)
Persistent Mullerian duct syndrome type I (AMH)
Peutz–Jeghers syndrome (STK11)
Pfeiffer syndrome (FGFR1)
Phelan-McDermid syndrome (SHANK3)
Phenylalanine Hydroxylase Deficiency (Phenylketonuria) (PAH)
Phosphoglycerate dehydrogenase deficiency (PHGDH)
Phosphoglycerate kinase 1 deficiency (PGK1)
Piebaldism / Gastrointestinal stromal tumors (GIST) (KIT)
Pierpont syndrome (TBL1XR1)
Pigmented nodular adrenocortical disease primary 3 (PDE8B)
PIK3CA-related disorder (PIK3CA)
Pilarowski-Bjornsson syndrome (CHD1)
Pitt–Hopkins syndrome (TCF4)
Pituitary adenoma 1 (AIP)
Pituitary adenoma 2 GH-secreting (GPR101)
pituitary stalk interruption syndrome (ROBO1)
PLP1-related disorders (PLP1)
PNPLA6-related disorder (PNPLA6)
Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
POLG-related disorders (POLG)
POLR1C-related disorders (POLR1C)
Polycystic kidney disease PKHD1-related (PKHD1)
Polycystic kidney disease with or without polycystic liver disease (DNAJB11)
Polycystic kidney/liver disease 3 (GANAB)
Polycystic liver disease (PRKCSH)
Polycystic liver disease (SEC63)
Polydactyly (LMBR1)
POMGNT1 Alpha-dystroglycanopathies (POMGNT1)
Pompe disease (GAA)
POMT1 Alpha-dystroglycanopathies (POMT1)
POMT2 Alpha-dystroglycanopathies (POMT2)
Pontocerebellar hypoplasia type 1A (VRK1)
Pontocerebellar hypoplasia type 1B (EXOSC3)
Pontocerebellar hypoplasia type 2D (SEPSECS)
Pontocerebellar hypoplasia type 6 (RARS2)
Porokeratosis 8 disseminated superficial actinic type (SLC17A9)
Porokeratosis 9 multiple types (FDPS)
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy (MED17)
POT1 tumor predisposition syndrome (POT1)
PPAP (polymerase proofreading–associated polyposis) (POLE)
PPP2R5B-related Overgrowth Disorder (PPP2R5B)
PPP2R5C-related Overgrowth Disorder (PPP2R5C)
predisposition to nonsyndromic Wilms tumor (TRIM28)
Predisposition to PPAP (polymerase proofreading–associated polyposis) / Mandibular hypoplasia
predisposition to uveal melanoma (MBD4)
PRICKLE3-related disorder (PRICKLE3)
Primary aldosteronism
Primary aldosteronism, seizures, and neurologic abnormalities (CACNA1D)
Primary ciliary dyskinesia 19 (DNAAF11)
Primary ciliary dyskinesia 39 / Senior-Loken Syndrome 7 (FBN3)
Primary ciliary dyskinesia DNAH5-related (DNAH5)
Primary ciliary dyskinesia DNAI1-related (DNAI1)
Primary ciliary dyskinesia DNAI2-related (DNAI2)
Primary ciliary dyskinesia DNAL1-related (DNAL1)
Primary ciliary dyskinesia type 14 (CCDC39)
Primary ciliary dyskinesia type 17 (CCDC103)
Primary ciliary dyskinesia type 30 (CCDC151)
Primary congenital glaucoma (CYP1B1)
Primary hyperoxaluria type 1 (AGXT)
Primary hyperoxaluria type II (GRHPR)
Primary hyperoxaluria type III (HOGA1)
Primary microcephaly 1 recessive (MCPH1)
Primrose syndrome (ZBTB20)
PRKAR1A-related disorder (PRKAR1A)
progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (PEOA5) (RRM2B)
Progressive familial intrahepatic cholestasis (ABCB11)
Progressive pseudorheumatoid dysplasia (CCN6)
Propionic acidemia PCCA-related (PCCA)
Propionic acidemia PCCB-related (PCCB)
Prostate cancer susceptibility (HOXB13)
PRPS1-related disorders (PRPS1)
Pseudoachondroplasia (COMP)
Pseudohypoaldosteronism 2D (KLHL3)
Pseudohypoaldosteronism I (NR3C2)
Pseudohypoaldosteronism type 2B (WNK4)
Pseudohypoaldosteronism type 2C (WNK1)
Pseudohypoparathyroidism I (GNAS)
Pseudohypoparathyroidism Ib (STX16)
PTCHD1-related disorder (PTCHD1)
pulmonary arterial hypertension (SOX17)
Pycnodysostosis (CTSK)
Pyruvate carboxylase deficiency (PC)
Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
Pyruvate dehydrogenase E1-beta deficiency (PDHB)
Radio-Tartaglia syndrome (SPEN)
Rahman syndrome (H1-4)
RANBP2-related disorder (RANBP2)
RAPSN-associated acetylcholine receptor deficiency (RAPSN)
Rauch-Steindl syndrome (NSD2)
Raynaud-Claes syndrome (CLCN4)
RBFOX2-related Congenital Heart Disease (RBFOX2)
RELA-related disorder (RELA)
Renal cystic dysplasia (BICC1)
Renal cysts and diabetes syndrome (HNF1B)
renal hypodysplasia/aplasia (FGF20)
renal hypodysplasia/aplasia (FOXA2)
Renal hypodysplasia/aplasia 3 / Deafness 80 (GREB1L)
Renal tubular dysgenesis (ACE)
Renal tubular dysgenesis (AGTR1)
Renal-coloboma syndrome (PAX2)
Renpenning syndrome (PQBP1)
Retinal dystrophy early-onset with or without pituitary dysfunction (OTX2)
Retinal Macular Dystrophy / Stargardt-like Disease (PROM1)
Retinitis pigmentosa (CA4)
Retinitis pigmentosa (IMPDH1)
Retinitis pigmentosa (KLHL7)
Retinitis Pigmentosa (NR2E3)
Retinitis pigmentosa (NRL)
Retinitis pigmentosa (OR2W3)
Retinitis pigmentosa (PRPF3)
Retinitis pigmentosa (PRPF31)
Retinitis pigmentosa (PRPF4)
Retinitis pigmentosa (PRPF6)
Retinitis pigmentosa (ROM1)
Retinitis pigmentosa (RP1)
Retinitis pigmentosa (RP9)
Retinitis pigmentosa (SNRNP200)
Retinitis pigmentosa (TOPORS)
retinitis pigmentosa / cone-rod dystrophy (SEMA4A)
Retinitis pigmentosa / Congenital Stationary Night Blindness (RHO)
Retinitis pigmentosa / Leber Congenital Amaurosis / Macular dystrophy / Central Areolar Choroidal Dystrophy (CACD) / Stargardt disease (PRPH2)
Retinitis pigmentosa 13 (PRPF8)
Retinitis pigmentosa 25 (EYS)
Retinitis pigmentosa 26 (CERKL)
Retinitis pigmentosa 28 (FAM161A)
Retinitis pigmentosa 30 (FSCN2)
Retinitis pigmentosa 59 (DHDDS)
Retinitis Pigmentosa CNGA1-related (CNGA1)
Retinitis Pigmentosa CNGB1-related (CNGB1)
Retinitis pigmentosa IDH3B-related (IDH3B)
Retinitis pigmentosa PDE6A-related (PDE6A)
Retinoblastoma (DGKZ)
Retinoblastoma (RB1)
Rett syndrome (MECP2)
Rett syndrome congenital variant (FOXG1)
RGS6-related Cataracts (RGS6)
Rhizomelic chondrodysplasia punctata type 1 (PEX7)
Rhizomelic chondrodysplasia punctata type 3 (AGPS)
Ritscher-Schinzel syndrome 2 (CCDC22)
Ritscher-Schinzel syndrome 4 (DPYSL5)
Roberts syndrome (ESCO2)
Robinow syndrome (FZD2)
Robinow syndrome autosomal dominant 1 (WNT5A)
Robinow syndrome autosomal dominant 2 (DVL1)
Robinow syndrome autosomal dominant 3 (DVL3)
ROBO2-related disorder (ROBO2)
Rolandic epilepsy impaired intellectual development and speech dyspraxia (SRPX2)
ROR2-related Brachydactyly (ROR2)
Rothmund–Thomson syndrome / RAPADILINO syndrome / Baller-Gerold syndrome (RECQL4)
RPE65-related retinopathy (RPE65)
RPGRIP1L-related ciliopathies (RPGRIP1L)
Rubinstein-Taybi syndrome (CREBBP)
Rubinstein-Taybi syndrome 2 (EP300)
RYR2-related disorder (RYR2)
Saethre-Chotzen syndrome (TWIST1)
SALL4-related disorders (SALL4)
Sandhoff disease (HEXB)
SBBYSS syndrome (KAT6B)
Scalp-ear-nipple (SEN) syndrome (KCTD1)
Schaaf-Yang syndrome (MAGEL2)
Schimke immunoosseous dysplasia (SMARCAL1)
Schindler disease types 1 and 3 (NAGA)
Schinzel-Giedion midface retraction syndrome (SETBP1)
Schizencephaly (EMX2)
Schizencephaly (SHH)
Schizencephaly (SIX3)
Schizophrenia 6 / Adenocarcinoma predisposition (NRG1)
Schizophrenia and autism susceptibility (APOL2)
Schizophrenia and autism susceptibility (APOL4)
Schizophrenia and autism susceptibility (CHI3L1)
Schizophrenia and autism susceptibility (COMT)
Schizophrenia and autism susceptibility (DAOA)
Schizophrenia and autism susceptibility (DISC1)
Schizophrenia and autism susceptibility (HTR2A)
Schizophrenia and autism susceptibility (NRG1)
Schizophrenia and autism susceptibility (RTN4R)
Schizophrenia and autism susceptibility (SYN2)
Schuurs-Hoeijmakers syndrome (PACS1)
SCL17A3-related disorder (SLC17A3)
SCL9A9-related disorder (SLC9A9)
Seckel syndrome (ATRIP)
Segawa syndrome (TH)
Seizures benign neonatal 2 (KCNQ3)
Septo-optic dysplasia (HESX1)
Serrated polyposis syndrome (RNF43)
Severe Combined Immunodeficiency 49 (BCL11B)
Severe combined immunodeficiency JAK3-related (JAK3)
Severe combined immunodeficiency with sensitivity to ionizing radiation (DCLRE1C)
Severe congenital neutropenia 1 (ELANE)
Severe congenital neutropenia HAX1-related (HAX1)
Severe congenital neutropenia VPS45-related (VPS45)
SHANK2-related disorder (SHANK2)
Shashi-Pena syndrome (ASXL2)
Short branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (ACADSB)
Short stature
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (BMP2)
short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) (EXOSC2)
Short stature-micrognathia syndrome (ARCN1)
Short-chain acyl-coA dehydrogenase (SCAD) deficiency (ACADS)
Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1)
Shprintzen–Goldberg syndrome (SKI)
Shukla-Vernon syndrome (BCORL1)
Shwachman-Diamond syndrome 1 (SBDS)
Sialic acid storage disorder (SLC17A5)
Sifrim-Hitz-Weiss syndrome (CHD4)
Silver-Russell syndrome 3 (IGF2)
Silver-Russell syndrome 5 (HMGA2)
Simpson-Golabi-Behmel syndrome type 1 (GPC3)
Simpson-Golabi-Behmel syndrome type 2 (OFD1)
Simpson–Golabi–Behmel syndrome (GPC3)
Sjogren-Larsson syndrome (ALDH3A2)
SLC26A2-related disorders (SLC26A2)
SLC6A2-related disorder (SLC6A2)
SLCO1B3-related disorder (SLCO1B3)
SLITRK1-related disorder (SLITRK1)
Smith-Kingsmore syndrome (MTOR)
Smith-Lemli-Opitz syndrome (DHCR7)
Smith–Magenis syndrome (RAI1)
Snijders Blok-Campeau syndrome (CHD3)
Snijders Blok-Fisher syndrome (POU3F3)
Sorsby fundus dystrophy (TIMP3)
Sotos syndrome (NSD1)
Spastic paraplegia 10 autosomal dominant (KIF5A)
Spastic paraplegia 15 (ZFYVE26)
Spastic paraplegia 3A (ATL1)
Spastic paraplegia 4 (SPAST)
Spastic paraplegia 49 (TECPR2)
Spastic paraplegia 6 autosomal dominant (NIPA1)
Spastic Paraplegia 73 (CPT1C)
Spastic paraplegia type 7 (SPG7)
Spastic quadriplegic cerebral palsy / Intellectual disability with or without steroid resistant nephrotic syndrome (KANK1)
Spastic Quadriplegic Cerebral Palsy 3 (ADD3)
spastic tetraplegia
spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) (SLC1A4)
Speech-language disorder-1 (FOXP2)
SPG11-related Neuromuscular Disorders (SPG11)
Spinal Muscular Atrophy (SMN1)
Spinal muscular atrophy lower extremity-predominant 2A/B (BICD2)
Spinocerebellar ataxia 10 (ANO10)
Spinocerebellar ataxia 12 (PPP2R2B)
Spinocerebellar ataxia 13 (KCNC3)
Spinocerebellar ataxia 14 (PRKCG)
Spinocerebellar ataxia 21 (TMEM240)
Spinocerebellar ataxia 23 (PDYN)
Spinocerebellar ataxia 26 (EEF2)
Spinocerebellar ataxia 27A/B (FGF14)
Spinocerebellar ataxia 37 (DAB1)
Spinocerebellar ataxia 38 (SCA38) (ELOVL5)
Spinocerebellar ataxia 42 (CACNA1G)
spinocerebellar ataxia 45 (SCA45) (FAT2)
Spinocerebellar ataxia type 15 (SCA15) / Spinocerebellar ataxia type 29 (SCA29) / Gillespie syndrome (GLSP) (ITPR1)
Spinocerebellar ataxia type 28 (AFG3L2)
spinocerebellar ataxia with or without congenital anomalies of the kidneys and urinary tract (CAKUT) (FAT1)
Spinocerebellar ataxia X-linked 1 (ATP2B3)
split hand-split foot malformation / radial ray defects (FBXW4)
Split hand/foot malformation (BTRC)
split-hand/foot malformation (DYNC1I1)
Split-hand/foot malformation 1 (DLX5)
Split-hand/foot malformation 1 (DLX6)
Spondylocostal dysostosis (MESP2)
Spondylocostal dysostosis / Mayer-Rokitansky-Küster-Hauser syndrome / congenital anomalies of the kidney and urinary tract (CAKUT) (TBX6)
Spondylocostal dysostosis 7 (DMRT2)
Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia X-linked (BGN)
Spondyloepimetaphyseal dysplasia, aggrecan type / Kimberley type (ACAN)
spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) (RSPRY1)
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia, corner fracture type / Glomerulopathy with fibronectin deposits 2 (FN1)
SRY-related disorders of sex development (SRY)
SSX1-related disorder (SSX1)
STAG1-related syndromic intellectual disability (STAG1)
Stankiewicz-Isidor syndrome (PSMD12)
STAR syndrome (CCNQ)
Stargardt disease 1 (ABCA4)
Stargardt disease 3 / Spinocerebellar Ataxia 34 (SCA34) (ELOVL4)
Steel syndrome (COL27A1)
Stickler syndrome 1 / Achondrogenesis 2 (COL2A1)
Stickler syndrome 2 / Fibrochondrogenesis 1 (COL11A1)
Stolerman neurodevelopmental syndrome (KDM6B)
Structural brain anomalies with impaired intellectual development and craniosynostosis (ZIC1)
Stuve-Wiedemann syndrome (LIFR)
Supravalvular aortic stenosis (ELN)
Surfactant metabolism dysfunction pulmonary 3 (ABCA3)
surfactant protein C (SP-C) deficiency (SFTPC)
Sveinsson chorioretinal atrophy (SCRA) (TEAD1)
Symmetric circumferential skin creases congenital 2 (MAPRE2)
Synpolydactyly (HOXD13)
Synpolydactyly 3/3'4 associated with metacarpal and metatarsal synostoses (FBLN1)
Systemic primary carnitine deficiency (SLC22A5)
TAB2-related disorder (TAB2)
Takenouchi-Kosaki syndrome (CDC42)
TARP syndrome (RBM10)
Tay-Sachs disease (HEXA)
TBX18-related disorder (TBX18)
TBX2-related disorder (TBX2)
TCF7L2-related disorder (TCF7L2)
Teebi hypertelorism syndrome 1 (SPECC1L)
Temple-Baraitser syndrome (KCNH1)
TENM4-related disorder (TENM4)
Tenorio syndrome (RNF125)
TERT-related dyskeratosis congenita (DC) spectrum disorders (TERT)
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1 (H4C3)
Testicular anomalies with or without congenital heart disease (GATA4)
Tetrahydrobiopterin deficiency (PTS)
Tetrahydrobiopterin deficiency PCBD1-related (PCBD1)
Tetrahydrobiopterin deficiency QDPR-related (QDPR)
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (RAP1B)
Thrombocytopenia 2 (ANKRD26)
Thrombocytopenia 4 (CYCS)
Thrombocytopenia with possible leukemia predisposition (ETV6)
Thrombocytopenia-absent radius syndrome (RBM8A)
thrombomodulin-associated coagulopathy (TM-AC) / atypical hemolytic uremic syndrome (aHUS) (THBD)
Thyroid dyshormonogenesis IYD-related (IYD)
Thyroid dyshormonogenesis SLC5A5-related (SLC5A5)
Thyroid dyshormonogenesis TG-related (TG)
Thyroid dyshormonogenesis TPO-related (TPO)
TM4SF20-related disorder (TM4SF20)
TMEM216-related ciliopathies (TMEM216)
TMLHE-related disorder (TMLHE)
TNC-related disorder (TNC)
Tolchin-Le Caignec syndrome (SOX6)
Tonne-Kalscheuer syndrome (RLIM)
TOP2B-related disorder (TOP2B)
Townes-Brocks syndrome 1 (SALL1)
Treacher Collins syndrome (TCOF1)
Tricho-dento-osseous syndrome (DLX3)
Trichohepatoenteric syndrome (TTC37)
Trichothiodystrophy 5 nonphotosensitive (RNF113A)
Trifunctional protein deficiency (HADHA)
TRIM32-related disorders (TRIM32)
Trimethylaminuria (FMO3)
Trismus-pseudocamptodactyly syndrome (MYH8)
Tritanopia (OPN1SW)
TRPC6-related disorder (TRPC6)
TRPM7-related disorder (TRPM7)
TRPS1-related disorder (TRPS1)
TUBA8-related disorder (TUBA8)
TUBB1-related macrothrombocytopenia (TUBB1)
Tuberous sclerosis-1 (TSC1)
Tuberous sclerosis-2 (TSC2)
tubular aggregate myopathy 1 (TAM1) / Stormorken (STRMK) syndrome (STIM1)
Tubulointerstitial kidney disease (SEC61A1)
Tumor predisposition syndrome 4 (breast / prostate / colorectal cancer) (CHEK2)
Turnpenny-Fry syndrome (PCGF2)
Tylosis with esophageal cancer (RHBDF2)
Tyrosinemia type 1 (FAH)
Tyrosinemia type II (TAT)
USH1C-related disorders (USH1C)
Usher syndrome (MYO7A)
Usher syndrome type 1D (CDH23)
Usher syndrome type 2A (USH2A)
Usher syndrome type 2D (WHRN)
Usher syndrome type 3A (CLRN1)
Usher syndrome type IG (USH1G)
VACTERL-H syndrome (FANCB)
Van Esch-O'Driscoll syndrome (POLA1)
Velocardiofacial syndrome (TBX1)
ventricular septal defects (VSD) and tetralogy of Fallot (TOF) / Dilated cardiomyopathy (HAND2)
Ventriculomegaly with cystic kidney disease (CRB2)
Verheij syndrome (PUF60)
Ververi-Brady syndrome (QRICH1)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (ACADVL)
Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL)
Visceral Heterotaxy 4 (ACVR2B)
Vissers-Bodmer syndrome (CNOT1)
Vitamin D–dependent rickets type 1 (CYP27B1)
Vitreoretinopathy (CAPN5)
Von Hippel–Lindau syndrome (VHL)
Vulto-van Silfout-de Vries syndrome (DEAF1)
Waardenburg syndrome type 2a / predisposition to cutaneous malignant melanoma (MITF)
Waardenburg syndrome type 2E/4C (SOX10)
Wagner syndrome / Retinitis Pigmentosa (VCAN)
Waisman syndrome (RAB39B)
Warsaw breakage syndrome (DDX11)
WAS-related hematopoietic disorder (WAS)
Weaver syndrome (EZH2)
Weiss-Kruszka syndrome (ZNF462)
WHIM syndrome 1 (CXCR4)
White-Kernohan syndrome (DDB1)
White-Sutton syndrome (POGZ)
Wieacker-Wolff syndrome (ZC4H2)
Wiedemann-Steiner syndrome (KMT2A)
Wilms Tumor predisposition (REST)
Wilson disease (ATP7B)
Wilson-Turner syndrome (LAS1L)
Witteveen-Kolk syndrome (SIN3A)
WNT10A-related ectodermal dysplasias (WNT10A)
Wolcott-Rallison Syndrome (EIF2AK3)
Wolfram syndrome (WFS1)
X-linked Aarskog-Scott syndrome (FGD1)
X-linked Adrenoleukodystrophy (ABCD1)
X-linked Chondrodysplasia punctata (EBP)
X-linked epilepsy with variable learning disabilities (SYN1)
X-linked hearing loss POU3F4-related (POU3F4)
X-linked Hypophosphatemic rickets (PHEX)
X-linked Intellectual disability AP1S2-related (AP1S2)
X-linked intellectual disability ARX-related (ARX)
X-linked intellectual disability BRWD3-related (BRWD3)
X-linked intellectual disability CUL4B-related (CUL4B)
X-linked intellectual disability DLG3-related (DLG3)
X-linked intellectual disability FTSJ1-related (FTSJ1)
X-linked intellectual disability IL1RAPL1-related (IL1RAPL1)
X-linked intellectual disability KDM5C-related (KDM5C)
X-linked intellectual disability PAK3-related (PAK3)
X-linked intellectual disability Siderius type (PHF8)
X-linked Intellectual disability THOC2-related (THOC2)
X-linked intellectual disability ZDHHC9-related (ZDHHC9)
X-linked intellectual disability ZNF711-related (ZNF711)
X-linked intellectual disability- cerebellar hypoplasia syndrome (OPHN1)
X-linked Ocular albinism GPR143-related (GPR143)
X-linked Retinitis pigmentosa RP2-related (RP2)
X-linked Retinitis pigmentosa RPGR-related (RPGR)
X-linked severe combined immunodeficiency (IL2RG)
Xeroderma pigmentosum group A (XPA)
Xeroderma pigmentosum group B / Cockayne spectrum (ERCC3)
Xeroderma pigmentosum group C (XPC)
Xia-Gibbs syndrome (AHDC1)
XXX
ZCCHC8-related disorder (ZCCHC8)
Zellweger syndrome PEX1-related (PEX1)
Zellweger syndrome PEX10-related (PEX10)
Zellweger syndrome PEX12-related (PEX12)
Zellweger syndrome PEX2-related (PEX2)
Zellweger syndrome PEX6-related (PEX6)
ZFHX4-related disorder (ZFHX4)
ZFPM2-related disorder (ZFPM2)
Zimmermann-Laband syndrome 2 (ATP6V1B2)
Zimmermann-Laband syndrome 3 (KCNN3)
ZTTK syndrome (SON)
\Neurodevelopmental disorder with neonatal respiratory insufficiency hypotonia and feeding difficulties (PURA)
\Renal tubular acidosis with deafness (ATP6V1B1)

Filter out donors that have tested positive for chosen genetic conditions. If a condition does not appear on this list, our donors have not tested positive for it. For a complete list of conditions screened, please contact us, or view the full gene panel PDF included on each donor profile.

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Asher, #0045

5’7” | 189 lbs
- Hair Color: Black
- Eye Color: Dark Brown
- Ancestry: Hispanic
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Jaxon, #3635

5’9” | 165 lbs
- Hair Color: Dark Blond
- Eye Color: Blue
- Ancestry: Caucasian
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Akin, #0039

6’3” | 170 lbs
- Hair Color: Black
- Eye Color: Dark Brown
- Ancestry: African
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Manny, #0058

6’4” | 155 lbs
- Hair Color: Dark Brown
- Eye Color: Brown
- Ancestry: African American, Caucasian
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Scott, #0021

5’11” | 195 lbs
- Hair Color: Dark Brown
- Eye Color: Blue
- Ancestry: Caucasian
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Robin, #3135

6’4” | 180 lbs
- Hair Color: Dark Brown
- Eye Color: Brown
- Ancestry: Caucasian, Indigenous — US
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Kai, #0015

5’10” | 140 lbs
- Hair Color: Dark Brown
- Eye Color: Hazel
- Ancestry: Caucasian, Hispanic
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Joshua, #0001

6’3” | 245 lbs
- Hair Color: Medium Blond
- Eye Color: Green
- Ancestry: Caucasian, Indigenous — US
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Devin, #0028

5’11” | 205 lbs
- Hair Color: Light Brown
- Eye Color: Hazel/Green
- Ancestry: Caucasian
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Bryan, #0038

6’4” | 235 lbs
- Hair Color: Dark Brown
- Eye Color: Blue
- Ancestry: Caucasian
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Gabe, #0006

5’10” | 210 lbs
- Hair Color: Black
- Eye Color: Brown
- Ancestry: Caucasian, Hispanic
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Edgar, #3362

6’1” | 185 lbs
- Hair Color: Dark Brown
- Eye Color: Blue
- Ancestry: Caucasian
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Matthew, #0002

6’2” | 200 lbs
- Hair Color: Medium Blond
- Eye Color: Hazel
- Ancestry: Caucasian
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Terrance, #0022

5’7” | 170 lbs
- Hair Color: Medium Brown
- Eye Color: Brown
- Ancestry: African American
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Nate, #0069

6’ | 170 lbs
- Hair Color: Black
- Eye Color: Brown
- Ancestry: African American
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Lawrence, #0029

6’1” | 170 lbs
- Hair Color: Medium Brown
- Eye Color: Blue
- Ancestry: Caucasian
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Jamal, #2996

6’3” | 185 lbs
- Hair Color: Black
- Eye Color: Brown
- Ancestry: African American
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Feliks, #3739

6’1” | 174 lbs
- Hair Color: Medium Brown
- Eye Color: Blue
- Ancestry: Caucasian
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Ace, #0014

5’11” | 254 lbs
- Hair Color: Black
- Eye Color: Brown
- Ancestry: African American
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Levi, #0040

6’1” | 174 lbs
- Hair Color: Dark Brown
- Eye Color: Brown
- Ancestry: Caucasian
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Jimi, #0016

6’ | 225 lbs
- Hair Color: Medium Brown
- Eye Color: Hazel/Green
- Ancestry: Caucasian
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Austin, #0005

6’3” | 185 lbs
- Hair Color: Medium Blond
- Eye Color: Blue
- Ancestry: Caucasian
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Milo, #0018

6’2” | 200 lbs
- Hair Color: Light Brown
- Eye Color: Hazel
- Ancestry: Caucasian
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ICON DICTIONARY

Vials & Donor Status

There are more than 25 vials for this donor available.
There are 11–25 vials for this donor available.
There are 10 vials or less for this donor available.
This donor has children of their own .
Anonymous ID: This donor does not wish to release identity.
Open ID: This donor is open to future contact with donation-born offspring over the age of 18.
Cryomate Success: This donor has reported successful pregnancies.

Shipping Compliancy

The donor is compliant for purchase in the U.S.A.
The donor is compliant for purchase in the U.K.
The donor is compliant for purchase in Europe
The donor is compliant for purchase in Canada
The donor is compliant for purchase in the Australia.
The donor is compliant for purchase in Israel.

ICON DICTIONARY

Vials & Donor Status

There are more than 25 vials for this donor available.
There are 11–25 vials for this donor available.
There are 10 vials or less for this donor available.
This donor has children of their own .
Anonymous ID: This donor does not wish to release identity.
Open ID: This donor is open to future contact with donation-born offspring over the age of 18.
Cryomate Success: This donor has reported successful pregnancies.

Shipping Compliancy

The donor is compliant for purchase in the U.S.A.
The donor is compliant for purchase in the U.K.
The donor is compliant for purchase in Europe
The donor is compliant for purchase in Canada
The donor is compliant for purchase in the Australia.
The donor is compliant for purchase in Israel.

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