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A.R. Rahman

Aamir Khan (actor)

Aaron Yoo

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SEARCH BY CONDITION

Find genes that fit! If you are a carrier for one or more recessive conditions, select the condition(s) from the list below. This will display all the donors who have screened negative for those specific conditions. Learn more about getting yourself tested and about our donor screening process.

0 CONDITION(S) SELECTED Clear Selection

You may select up to 20 conditions. For further assistance please contact our Genetics Department at 877-743-6384

11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP11B1)

17-Beta-Hydroxysteroid Dehydrogenase Deficiency (HSD17B3)

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP21A2)

2-methylbutyrylglycinuria (ACADSB)

3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (HSD3B2)

3M syndrome (CCDC8)

3M syndrome (CUL7)

3M syndrome (OBSL1)

3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1-Related) (MCCC1)

3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2-Related) (MCCC2)

3-Methylglutaconic Aciduria, Type III (OPA3)

3-phosphoglycerate dehydrogenase deficiency (PHGDH)

5-alpha reductase deficiency (SRD5A2)

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS)

ABCA12-related congenital ichthyosis

ABCA3-Related Surfactant Dysfunction (ABCA3)

Abetalipoproteinemia (MTTP)

achalasia-addisonianism-alacrimia syndrome (AAAS)

achromatopsia (CNGA3-related) (CNGA3)

Achromatopsia 3 (CNGB3)

Acrodermatitis Enteropathica (SLC39A4)

Action Myoclonus Renal Failure Syndrome (SCARB2)

Acute infantile liver failure (LARS1)

Acute infantile liver failure (NBAS)

Acute Infantile Liver Failure (TRMU)

Acyl-CoA Oxidase I Deficiency (ACOX1)

Adams-Oliver syndrome 4 (EOGT)

Adenosine Deaminase Deficiency (ADA)

adrenocorticotropic hormone deficiency (TBX19)

Adrenoleukodystrophy, X-Linked (ABCD1)

agammaglobulinemia (X-linked) (BTK)

agenesis of the corpus callosum (FRMD4A)

Aicardi-Goutières syndrome (RNASEH2A)

Aicardi-Goutieres Syndrome (RNASEH2B)

Aicardi-Goutieres syndrome (RNASEH2C-related) (RNASEH2C)

Aicardi-Goutieres syndrome (TREX1-related) (TREX1)

Aicardi-Goutires Syndrome (SAMHD1-Related) (SAMHD1)

Albinism brown oculocutaneous / Albinism, oculocutaneous, type 2 (OCA2)

albinism, oculocutaneous, type III (TYRP1)

ALG3-related disorders (ALG3)

alkaptonuria (HGD)

Alpha-1-Antitrypsin Deficiency (SERPINA1)

Alpha-Mannosidosis (MAN2B1)

Alpha-Thalassemia (HBA1/HBA2)

Alpha-Thalassemia Mental Retardation Syndrome (ATRX)

Alport Syndrome (COL4A3-Related) (COL4A3)

Alport Syndrome (COL4A4-Related) (COL4A4)

Alport Syndrome (COL4A5-Related) (COL4A5)

Alstrom Syndrome (ALMS1)

Andermann Syndrome/Agenesis of the corpus callosum with neuropathy (SLC12A6)

Antley-Bixler syndrome (POR-related) (POR)

Argininemia (ARG1)

Argininosuccinic Aciduria (ASL)

Aromatase Deficiency (CYP19A1)

Aromatic l-amino acid decarboxylase deficiency (DDC)

Arterial tortuosity syndrome (SLC2A10)

Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)

Asparagine Synthetase Deficiency (ASNS)

Aspartylglucosaminuria (AGA)

Ataxia With Isolated Vitamin E Deficiency (TTPA)

Ataxia-Telangiectasia (ATM)

ataxia-telangiectasia-like disorder 1 (MRE11)

Atransferrinemia (TF)

Autosomal recessive congenital ichthyosis (ARCI) (ALOX12B)

Autosomal recessive congenital ichthyosis (ARCI) (ALOXE3)

Autosomal recessive congenital ichthyosis (ARCI) (CASP14)

Autosomal recessive congenital ichthyosis (ARCI) (CERS3)

Autosomal recessive congenital ichthyosis (ARCI) (CYP4F22)

Autosomal recessive congenital ichthyosis (ARCI) (LIPN)

Autosomal recessive congenital ichthyosis (ARCI) (NIPAL4)

Autosomal recessive congenital ichthyosis (ARCI) (PNPLA1)

Autosomal recessive congenital ichthyosis (ARCI) (SDR9C7)

Autosomal recessive congenital ichthyosis (ARCI) (SLC27A4)

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)

Axonal neuropathy with neuromyotonia, autosomal recessive (HINT1)

Bardet-Biedl syndrome (ARL6-related) (ARL6)

Bardet-Biedl syndrome (BBS10-related)

Bardet-Biedl Syndrome (BBS12-Related) (BBS12)

Bardet-Biedl syndrome (BBS1-related)

Bardet-Biedl Syndrome (BBS2-Related) (BBS2)

Bardet-Biedl syndrome (BBS4-related) (BBS4)

Bardet-Biedl syndrome (BBS5)

Bardet-Biedl syndrome (BBS7)

Bardet-Biedl syndrome (BBS9)

Bardet-Biedl syndrome (MKKS)

Bardet-Biedl syndrome (SDCCAG8)

Bardet-Biedl syndrome (TTC8)

Bardet-Biedl Syndrome 21 (CFAP418)

Bare lymphocyte syndrome type II (RFX5)

Bare lymphocyte syndrome type II (RFXANK)

Bare lymphocyte syndrome type II (RFXAP)

Bare Lymphocyte Syndrome, Type II (CIITA)

Barth syndrome (TAFAZZIN)

Barth syndrome (X-linked) (TAZ)

Bartter syndrome (KCNJ1)

Bartter syndrome (SLC12A1)

Bartter syndrome, type 3 (CLCNKB)

Bartter Syndrome, Type 4A (BSND)

Bernard-Soulier Syndrome, Type A1 (GP1BA)

Bernard-Soulier Syndrome, Type C (GP9)

Beta-Globin-Related Hemoglobinopathies (HBB)

Beta-Ketothiolase Deficiency (ACAT1)

Beta-Mannosidosis (MANBA)

Beta-ureidopropionase deficiency (UPB1)

BH4-Deficient Hyperphenylalaninemia C (QDPR)

BH4-Deficient Hyperphenylalaninemia D (PCBD1)

Bilateral Frontoparietal Polymicrogyria (ADGRG1)

Bilateral Frontoparietal Polymicrogyria (GPR56)

Biotinidase Deficiency (BTD)

Bloom Syndrome (BLM)

BRIP1-associated ovarian cancer susceptibility

Brittle cornea syndrome (PRDM5)

Brittle cornea syndrome (ZNF469)

Canavan Disease (ASPA)

Carbamoylphosphate Synthetase I Deficiency (CPS1)

Cardiac arrhythmia syndrome, with or without skeletal muscle weakness (TRDN)

Carnitine Acylcarnitine Translocase Deficiency (SLC25A20)

Carnitine Palmitoyltransferase IA deficiency (CPT1A)

Carnitine Palmitoyltransferase II Deficiency (CPT2)

Carpenter syndrome (MEGF8)

Carpenter Syndrome (RAB23)

Cartilage-Hair Hypoplasia (RMRP)

Catecholaminergic Polymorphic Ventricular Tachycardia-2 (CPVT2) (CASQ2)

CD59-mediated hemolytic anemia (CD59)

central hypothyroidism and testicular enlargement (X-linked) (IGSF1)

Cerebellar hypoplasia, VLDLR-associated (VLDLR)

cerebral creatine deficiency syndrome (GATM-related) (GATM)

Cerebral Creatine Deficiency Syndrome 1 (SLC6A8)

Cerebral Creatine Deficiency Syndrome 2 (GAMT)

cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (SNAP29)

Cerebrotendinous Xanthomatosis (CYP27A1)

Charcot-Marie TOoth Disease Type 2K/4A (GDAP1)

Charcot-Marie Tooth Disease, type 4B1 (MTMR2)

Charcot-Marie Tooth Disease, type 4C / Mononeurophathy of the median nerve, mild (SH3TC2)

Charcot-Marie-Tooth Disease, Type 4D (NDRG1)

Charcot-Marie-Tooth Disease, Type 5 / Arts syndrome (PRPS1)

Charcot-Marie-Tooth Disease, X-Linked (GJB1)

Chediak-Higashi Syndrome (CHS) (LYST)

Cholestasis, progressive familial intrahepatic 4 (TJP2)

Chondrodysplasia Punctata 1 (ARSE)

Chondrodysplasia punctata type 1, X-linked (ARSL)

Choreoacanthocytosis (VPS13A)

Choroideremia (CHM)

Chronic Granulomatous Disease (CYBA-related) (CYBA)

Chronic Granulomatous Disease (CYBB-related) (CYBB)

Chronic granulomatous disease (NCF2)

Chronic granulomatous disease (NCF4)

Citrin Deficiency (SLC25A13)

Citrullinemia, Type 1 (ASS1)

CLN3-related neuronal ceroid lipofuscinosis (CLN3)

Coats plus syndrome and dyskeratosis congenita, CTC1-related (CTC1)

Cohen Syndrome (VPS13B)

Cold-induced sweating syndrome, includes Crisponi syndrome (CLCF1)

Cold-induced sweating syndrome, includes Crisponi syndrome (CRLF1)

combined factor V and VIII deficiency (LMAN1)

Combined Malonic and Methylmalonic Aciduria (ACSF3)

Combined Oxidative Phosphorylation Deficiency 1 (GFM1)

Combined Oxidative Phosphorylation Deficiency 3 (TSFM)

Combined oxidative phosphorylation deficiency 6 (AIFM1)

combined pituitary hormone deficiency 1 (POU1F1)

Combined Pituitary Hormone Deficiency 2 (PROP1)

Combined Pituitary Hormone Deficiency 3 (LHX3)

Combined SAP Deficiency (PSAP)

cone-rod dystrophy 6 / Leber congenital amaurosis 1 (GUCY2D)

Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency (CYP17A1)

Congenital Adrenal Hypoplasia (NR0B1)

Congenital Adrenal Insufficiency (CYP11A1)

Congenital Amegakaryocytic Thrombocytopenia (MPL)

congenital bile acid synthesis defect (AKR1D1-related) (AKR1D1)

congenital bile acid synthesis defect (HSD3B7-related) (HSD3B7)

congenital disorder of deglycosylation (NGLY1)

Congenital disorder of glycosylation type 1E (DPM1)

Congenital Disorder of Glycosylation, Type Ia (PMM2)

Congenital Disorder of Glycosylation, Type Ib (MPI)

Congenital Disorder of Glycosylation, Type Ic (ALG6)

congenital disorder of glycosylation, type Im (DOLK)

Congenital Disorders of Glycosylation Type 1G

Congenital disorders of glycosylation type 4 (ALG1)

congenital dyserythropoietic anemia type 2 (SEC23B)

congenital dyserythropoietic anemia, type Ia (CDAN1)

Congenital generalized lipodystrophy (AGPAT2)

Congenital generalized lipodystrophy (CAVIN1)

Congenital Hydrocephalus 1 / Spinocerebellar Ataxia 40 (CCDC88C)

Congenital Insensitivity to Pain with Anhidrosis (NTRK1)

congenital myasthenic syndrome (CHAT-related) (CHAT)

Congenital myasthenic syndrome (CHRNE)

Congenital myasthenic syndrome (COLQ)

congenital myasthenic syndrome (DOK7-related) (DOK7)

Congenital myasthenic syndrome (GFPT1)

Congenital Myasthenic Syndrome (RAPSN-Related) (RAPSN)

Congenital Neutropenia (HAX1-Related) (HAX1)

Congenital Neutropenia (VPS45-Related) (VPS45)

congenital nongoitrous hypothryoidism 1 / nonautoimmune hyperthyroidis (TSHR)

Congenital Nongoitrous Hypothryoidism 4 (TSHB)

Congenital Secretory Chloride Diarrhea 1 (SLC26A3)

Corneal Dystrophy and Perceptive Deafness (SLC4A11)

Corticosterone Methyloxidase Deficiency (CYP11B2)

Crigler-Najjar syndrome type I/II / Hyperbilirubinemia, familial transient neonatal (UGT1A1)

Crystallin, Lambda 1 (CRYL1)

Cutis laxa (ATP6V0A2)

Cutis laxa (ATP6V1E1)

Cutis laxa (EFEMP2)

Cutis laxa (LTBP4)

Cutis laxa (PYCR1)

Cystic Fibrosis (CFTR)

Cystinosis (CTNS)

cystinuria (SLC3A1-related) (SLC3A1)

Cystinuria, non-type I (SLC7A9)

cytochrome c oxidase deficiency / Leigh syndrome (COX15-related) (COX15)

D-Bifunctional Protein Deficiency (HSD17B4)

Deafness type 1B, autosomal recessive (GJB6)

deafness, autosomal recessive 3 (MYO15A)

Deafness, autosomal recessive 31 / Usher syndrome, type 2D (WHRN)

deafness, autosomal recessive 59 (PJVK)

deafness, autosomal recessive 7 (TMC1)

deafness, autosomal recessive 76 (SYNE4)

Deafness, Autosomal Recessive 77 (LOXHD1)

deafness, autosomal recessive 8/10 (TMPRSS3)

Deafness, Autosomal Recessive 9 (OTOF)

Dent disease (CLCN5)

Deoxyguanosine kinase deficiency (DGUOK)

Desbuquois dysplasia 1 (CANT1)

desmosterolosis (DHCR24)

Developmental and epileptic encephalopathy 28 (WWOX)

diaphanospondylodysostosis (BMPER)

Dihydropyrimidine Dehydrogenase Deficiency (DPYD)

distal renal tubular acidosis / spherocytosis, type 4 (SLC4A1)

Distal spinal muscular atrophy, autosomal recessive (PLEKHG5)

Donnai-Barrow syndrome (LPR2)

Du Pan Syndrome (GDF5)

Dubin-Johnson syndrome (ABCC2)

Duchenne Muscular Dystrophy / Becker Muscular Dystrophy (DMD)

Dyskeratosis Congenita (RTEL1-Related) (RTEL1)

dyskeratosis congenita (X-linked) (DKC1)

Dyskeratosis congenita type 4 (TERT)

Dystrophic Epidermolysis Bullosa (COL7A1)

Early infantile epileptic encephalopathy (CAD)

Early infantile epileptic encephalopathy (ITPA)

Ehlers-Danlos syndrome, classic-like, 1 / Vesicoureteral reflux 8 (TNXB)

Ehlers-Danlos Syndrome, Type VI (PLOD1)

Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2)

Ellis-van Creveld Syndrome (EVC-Related) (EVC)

Ellis-Van Creveld Syndrome EVC2-Related (EVC2)

Emery-Dreifuss muscular dystrophy (FHL1)

Emery-Dreifuss Myopathy 1 (EMD)

Enhanced S-Cone Syndrome (NR2E3)

ERCC6-Related Disorders (ERCC6)

ERCC8-Related Disorders (ERCC8)

Ethylmalonic Encephalopathy (ETHE1)

Fabry Disease (GLA)

Factor IX Deficiency (F9)

Factor V Leiden (F5)

Factor VII Deficiency (F7) carrier screening

Factor XI Deficiency (F11)

Familial Autosomal Recessive Hypercholesterolemia (LDLRAP1)

Familial Dysautonomia, IKBKAP (ELP1)

Familial Hemophagocytic Lymphohistiocytosis (PRF1)

Familial hemophagocytic lymphohistiocytosis (STX11)

Familial hemophagocytic lymphohistiocytosis (STXBP2)

Familial hemophagocytic lymphohistiocytosis (UNC13D)

Familial Hypercholesterolemia (LDLR)

familial hyperinsulinemic hypoglycemia 4 / 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)

Familial Hyperinsulinism (ABCC8-Related) (ABCC8)

Familial Hyperinsulinism (KCNJ11-Related) (KCNJ11)

familial hyperphosphatemic tumoral calcinosis (GALNT3)

Familial Mediterranean Fever (MEFV)

Fanconi anemia (FANCB)

Fanconi anemia (FANCD2)

Fanconi anemia (FANCE)

Fanconi anemia (FANCF)

Fanconi anemia (FANCI)

Fanconi anemia (FANCL)

Fanconi Anemia, Group A (FANCA)

Fanconi Anemia, Group C (FANCC)

Fanconi Anemia, Group G (FANCG)

Fanconi-Bickel syndrome (SLC2A2)

Farber lipogranulomatosis (ASAH1)

Folate malabsorption, hereditary (SLC46A1)

Foveal hypoplasia 2 (SLC38A8)

Fragile X Intermediate Allele Carrier (FMR1)

Fragile X Syndrome (FMR1)

Fragile XE Intermediate Allele Carrier (AFF2)

Fraser Syndrome (FRAS1)

Fraser syndrome (FREM2)

Fraser syndrome 3 (GRIP1)

Friedreich ataxia (FXN)

fructose-1,6-bisphosphatase deficiency (FBP1)

fucosidosis (FUCA1)

Fumarase Deficiency (FH)

fundus albipunctatus (RDH5)

G6PD-related Hemolytic Anemia

GABA-transaminase deficiency (ABAT)

Galactokinase Deficiency (GALK1)

galactose epimerase deficiency (GALE)

Galactosemia (GALT)

galactosialidosis (CTSA)

Gaucher Disease (GBA)

generalized thyrotropin-releasing hormone resistance (TRHR)

geroderma osteodysplasticum (GORAB)

Gitelman Syndrome (SLC12A3)

Glanzmann thrombasthenia (ITGA2B-related) (ITGA2B)

Glanzmann thrombasthenia (ITGB3-related) (ITGB3)

Glutamate Formiminotransferase Deficiency (FTCD)

Glutaric Acidemia, Type I (GCDH)

Glutaric Acidemia, Type IIa (ETFA)

glutaric acidemia, type IIb (ETFB)

Glutaric Acidemia, Type IIc (ETFDH)

glutathione synthetase deficiency (GSS)

Glycine Encephalopathy (AMT-Related) (AMT)

Glycine Encephalopathy (GLDC-Related) (GLDC)

Glycogen storage disease type I (G6PC1)

Glycogen storage disease type IX (PHKA1)

Glycogen storage disease type IX (PHKA2)

Glycogen storage disease type IX (PHKG2)

glycogen storage disease, type 0 (GYS2)

Glycogen Storage Disease, Type 1a (G6PC)

Glycogen Storage Disease, Type Ib (SLC37A4)

Glycogen Storage Disease, Type II (GAA)

Glycogen Storage Disease, Type III (AGL)

Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease (GBE1)

glycogen storage disease, type IXb (PHKB)

Glycogen Storage Disease, Type V (PYGM)

glycogen storage disease, type VI (PYGL)

Glycogen Storage Disease, Type VII (PFKM)

GRACILE Syndrome and Other BCS1L-Related Disorders (BCS1L)

gray platelet syndrome (NBEAL2)

growth hormone deficiency, type IB (GHRHR)

HARP syndrome / Neurodegeneration with brain iron accumulation 1 (PANK2)

Hartnup disorder / Hyperglycinuria / Iminoglycinuria, digenic (SLC6A19)

Hemochromatosis, Type 2A or HJV-related (HFE2)

Hemochromatosis, Type 3 (TFR2)

Hemoglobin New York (HBB-related hemoglobinopathies)

Hemophilia A / Thrombophilia, X-Linked, due to Factor VIII Defect (F8)

Hepatic venoocclusive disease with immunodeficiency (SP110)

Hereditary Fructose Intolerance (ALDOB)

Hereditary hemochromatosis (HFE-related)

Hereditary Spastic Paraparesis 49 (TECPR2)

Hereditary spastic paraplegia (CYP7B1)

Hereditary spastic paraplegia (SPG21)

Hermansky-Pudlak syndrome (AP3B1)

Hermansky-Pudlak syndrome (AP3D1)

Hermansky-Pudlak syndrome (BLOC1S3)

Hermansky-Pudlak syndrome (BLOC1S6)

Hermansky-Pudlak syndrome (DTNBP1)

Hermansky-Pudlak syndrome (HPS5)

Hermansky-Pudlak Syndrome, Type 1 (HPS1)

Hermansky-Pudlak Syndrome, Type 3 (HPS3)

Hermansky-Pudlak syndrome, type 4 (HPS4)

Hermansky-Pudlak syndrome, type 6 (HPS6)

HMG-CoA Lyase Deficiency (HMGCL)

HMG-CoA synthase 2 deficiency (HMGCS2)

Holocarboxylase Synthetase Deficiency (HLCS)

Homocystinuria (CBS-Related) (CBS)

Homocystinuria, cblE Type (MTRR)

homocystinuria-megaloblastic anemia, cobalamin G type (MTR)

HPRT1 disorders (HPRT1)

Hyaline fibromatosis syndrome

Hydrocephalus (L1CAM)

Hydrolethalus Syndrome (HYLS1)

Hyper-IgD syndrome / Mevalonic aciduria (MVK)

Hyper-IgM Syndrome (CD40LG)

Hypermethioninemia due to Adenosine Kinase Deficiency (ADK)

Hypermethioninemia with deficiency of S-Adenosylhomocysteine hydrolase (AHCY)

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (SLC25A15)

Hyperprolinemia, Type II (ALDH4A1)

hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (SARS2)

Hypogonadotropic hypogonadism 7 without anosmia (GNRHR)

Hypohidrotic Ectodermal Dysplasia 1 (EDA)

hypomagnesemia 1 (TRPM6)

hypomyelinating leukodystrophy 12 (VPS11)

hypomyelinating leukodystrophy 3 (AIMP1)

Hypomyelinating leukodystropy type 5 (HYCC1)

Hypomyelination and congenital cataract (FAM126A)

hypoparathyroidism-retardation-dysmorphic syndrome (TBCE)

Hypophosphatasia (ALPL)

hypophosphatemic rickets with hypercalciuria (SLC34A3)

hypotrichosis 8 / autosomal recessive woolly hair 1 (LPAR6)

immunodeficiency 18 (CD3E)

immunodeficiency 19 (CD3D)

Immunodeficiency with hyper IgM syndrome (CD40)

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (CDCA7)

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (DNMT3B)

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (HELLS)

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (ZBTB24)

Inclusion Body Myopathy 2 (GNE)

Inconclusive for Tay Sachs Disease by Enzyme Analysis

Infantile Cerebral and Cerebellar Atrophy (MED17)

Infantile Neuroaxonal Dystrophy 1 and Other PLA2G6-related disorders (PLA2G6)

Infantile X-linked spinal muscular atrophy (UBA1)

Intellectual Development Disorder. X-linked 109 (AFF2)

Intellectual developmental disorder with variant lissencephaly (CRADD)

intrahepatic cholestasis (ATP8B1)

IPEX syndrome (immunodysregulation, polyendocrinopathy and enteropathy) (FOXP3)

Isolated Lissencephaly Sequence/Subcortical Band Heterotopia (DCX)

Isovaleric Acidemia (IVD)

Johanson-Blizzard syndrome (UBR1)

Joubert syndrome 15 (CEP41)

Joubert Syndrome 2 (TMEM216)

Joubert syndrome 21 (CSPP1)

Joubert Syndrome 3 (AHI1)

Joubert syndrome 31 (CEP120)

Joubert Syndrome 4 / Juvenile Nephronophthisis-1 / Senior-Loken Syndrome-1 (NPHP1)

Joubert Syndrome 7 / Meckel Syndrome 5 / Ciliopathies / COACH Syndrome (RPGRIP1L)

Joubert Syndrome 8 (ARL13B)

Joubert Syndrome 9 / COACH Syndrome (CC2D2A)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (B9D1)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (B9D2)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (CEP104)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (CPLANE1)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (INPP5E)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (KIF14)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (TCTN1)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (TCTN2)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (TCTN3)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (TMEM138)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (TMEM231)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (TMEM237)

Joubert syndrome and related disorders, including Meckel-Gruber syndrome (TMEM67)

junctional epidermolysis bullosa (COL17A1-related) (COL17A1)

junctional epidermolysis bullosa (ITGA6-related) (ITGA6)

junctional epidermolysis bullosa (ITGB4-related) (ITGB4)

Junctional Epidermolysis Bullosa (LAMA3-Related) (LAMA3)

Junctional Epidermolysis Bullosa (LAMB3-Related) (LAMB3)

Junctional Epidermolysis Bullosa (LAMC2-Related) (LAMC2)

Juvenile hereditary hemochromatosis (HAMP)

Kanzaki disease / Schindler disease type I/III (NAGA)

Kohlschutter-Tonz syndrome (ROGDI)

Krabbe Disease (GALC)

Lamellar Ichthyosis, Type 1 (TGM1)

Laron dwarfism (GHR)

Leber congenital amaurosis (LRAT)

Leber congenital amaurosis (RD3)

Leber congenital amaurosis (RPGRIP1)

Leber congenital amaurosis (SPATA7)

Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies (CEP290)

Leber Congenital Amaurosis 13 (RDH12)

Leber congenital amaurosis 15 / retinitis pigmentosa 14 (TULP1)

Leber Congenital Amaurosis 2 / Retinitis pigmentosa 20 (RPE65)

Leber congenital amaurosis 4 (AIPL1)

Leber Congenital Amaurosis 5 (LCA5)

Leber Congenital Amaurosis 8/Retinitis Pigmentosa 12 (CRB1)

Leigh syndrome (NDUFS7-related) (NDUFS7)

Leigh Syndrome (SURF1)

Leigh syndrome, autosomal recessive (FBXL4)

Leigh Syndrome, French-Canadian Type (LRPPRC)

Lethal Congenital Contracture Syndrome 1/Lethal Arthrogryposis w/ Anterior Horn Cell Disease (GLE1)

lethal congenital contracture syndrome 2 (ERBB3)

lethal congenital contracture syndrome 3 (PIP5K1C)

Leukodystrophy, hypomyelinating, 11 / Treacher Collins syndrome 3 (POLR1C)

Leukoencephalopathy with vanishing white matter (EIF2B1)

Leukoencephalopathy with vanishing white matter (EIF2B2)

Leukoencephalopathy with vanishing white matter (EIF2B3)

Leukoencephalopathy with vanishing white matter (EIF2B4)

Leukoencephalopathy with Vanishing White Matter (EIF2B5)

Leydig cell hypoplasia (LHCGR)

Limb-girdle muscular dystrophy, autosomal recessive (TRAPPC11)

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)

Limb-Girdle Muscular Dystrophy, Type 2H (TRIM32)

Limb-Girdle Muscular Dystrophy, Type 2I (FKRP)

limb-girdle muscular dystrophy, type 2L (ANO5)

Lipoamide dehydrogenase deficiency (DLD)

Lipoid Congenital Adrenal Hyperplasia (STAR)

Lipoprotein Lipase Deficiency (LPL)

Lissencephaly with Abnormal Genitalia (XLAG) (ARX)

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)

Lowe Syndrome (OCRL)

Lysinuric Protein Intolerance (SLC7A7)

Macular Corneal Dystrophy (CHST6)

malonyl-CoA decarboxylase deficiency (MLYCD)

Maple Syrup Urine Disease, Type 1a (BCKDHA)

Maple Syrup Urine Disease, Type 1b (BCKDHB)

Maple Syrup Urine Disease, Type II (DBT)

Meckel syndrome 1 / Bardet-Biedl Syndrome 13 (MKS1)

Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)

MEDNIK syndrome (AP1S1)

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)

megaloblastic anemia 1 (AMN)

Menkes Disease (ATP7A)/Occipital horn syndrome/Spinal muscular atrophy, distal, X-linked

mental retardation, autosomal recessive 3 (CC2D1A)

Merosin-Deficient Muscular Dystrophy (LAMA2)

Metachromatic Leukodystrophy (ARSA)

methionine adenosyltransferase I/III deficiency (MAT1A)

Methylmalonic Acidemia (MMAA-Related) (MMAA)

Methylmalonic acidemia (MMAB)

Methylmalonic Acidemia (MUT-Related) (MMUT)

Methylmalonic acidemia with homocystinuria (HCFC1)

Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type cblD (MMADHC)

methylmalonic aciduria and homocystinuria, cobalamin F type (LMBRD1)

Methylmalonic Aciduria and Homocystinuria, Type cblF (ABCD4)

Methylmalonic Aciduria/Homocystinuria: type cblC (MMACHC)

methylmalonyl-CoA epimerase deficiency (MCEE)

Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)

Microcephaly 1, primary, autosomal recessive (MCPH1)

Microphthalmia / Anophthalmia (VSX2)

Microphthalmia, isolated 3 (RAX)

Mitochondrial Complex I Deficiency (ACAD9-Related)/Acyl-CoA dehydrogenase type 9 deficiency (ACAD9)

mitochondrial complex I deficiency (NDUFA11-related) (NDUFA11)

Mitochondrial Complex I Deficiency (NDUFAF5-Related) (NDUFAF5)

Mitochondrial Complex I Deficiency (NDUFS6-Related) (NDUFS6)

mitochondrial complex I deficiency (NDUFV1-related) (NDUFV1)

mitochondrial complex I deficiency / Leigh syndrome (FOXRED1-related) (FOXRED1)

mitochondrial complex I deficiency / Leigh syndrome (NDUFAF2-related) (NDUFAF2)

mitochondrial complex I deficiency / Leigh syndrome (NDUFS4-related) (NDUFS4)

Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6)

mitochondrial complex IV deficiency (COX20-related) (COX20)

mitochondrial complex IV deficiency (COX6B1-related) (COX6B1)

mitochondrial complex IV deficiency (APOPT1-related) (APOPT1)

Mitochondrial complex IV deficiency (COA8)

mitochondrial complex IV deficiency (PET100-related) (PET100)

mitochondrial complex IV deficiency (SCO1-related) (SCO1)

mitochondrial complex IV deficiency / Leigh Syndrome (COX10-related) (COX10)

Mitochondrial complex IV deficiency, nuclear type 2 / Myopia 6 (SCO2)

Mitochondrial complex V deficiency (TMEM70)

mitochondrial DNA depletion syndrome 2 (TK2)

Mitochondrial DNA Depletion Syndrome 4A and 4B and Other POLG-related Disorders (POLG)

mitochondrial DNA depletion syndrome 5 (SUCLA2)

Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy (MPV17)

Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)

mitochondrial trifunctional protein deficiency (HADHB-related) (HADHB)

molybdenum cofactor deficiency A (MOCS1)

MTHFR deficiency (MTHFR)

Mucolipidosis II / IIIA (GNPTAB)

Mucolipidosis III Gamma (GNPTG)

Mucolipidosis IV (MCOLN1)

Mucopolysaccharidosis Type I (IDUA)

Mucopolysaccharidosis Type II (IDS)

Mucopolysaccharidosis Type IIIA (SGSH)

Mucopolysaccharidosis Type IIIB (NAGLU)

Mucopolysaccharidosis Type IIIC (HGSNAT)

Mucopolysaccharidosis Type IIID (GNS)

mucopolysaccharidosis type Iva (GALNS)

Mucopolysaccharidosis Type IVb / GM1 Gangliosidosis (GLB1)

Mucopolysaccharidosis type VI (ARSB)

mucopolysaccharidosis VII (GUSB)

Mucopolysaccharidosistype IX (HYAL1)

mulibrey nanism (TRIM37)

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

multiple pterygium syndrome (CHRNG)

Multiple Sulfatase Deficiency (SUMF1)

Muscle-Eye-Brain Disease/Other POMGNT1-Rltd Cgntl Muscular Dystrophy-Dystroglycanopathies (POMGNT1)

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 (CRPPA)

Muscular dystrophy-dystroglycanopathy 6 (LARGE1)

MUSK-related conditions (MUSK)

Myoneurogastrointestinal Encephalopathy (TYMP)

Myotonia congenita (CLCN1)

Myotubular Myopathy 1 (MTM1)

N-Acetylglutamate Synthase Deficiency (NAGS)

Nemaline Myopathy 2 (NEB)

nephrogenic diabetes insipidus (AVPR2-related) / nephrogenic syndrome (X-linked) (AVPR2)

Nephrogenic Diabetes Insipidus, Type II (AQP2)

Nephronophthisis (NPHP3)

nephronophthisis 2 (INVS)

Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish Nephrosis (NPHS1)

Nephrotic Syndrome (NPHS2-Related) / Steroid-Resistant Nephrotic Syndrome (NPHS2)

Nephrotic syndrome (PLCE1)

Netherton syndrome (SPINK5)

neurodegeneration due to cerebral folate transport deficiency (FOLR1)

Neurodegeneration with brain iron accumulation disorder (ATP13A2)

Neurodegeneration with brain iron accumulation disorder (C19orf12)

Neurodegeneration with brain iron accumulation disorder (COASY)

Neurodegeneration with brain iron accumulation disorder (CP)

Neurodegeneration with brain iron accumulation disorder (FA2H)

Neuronal ceroid lipofuscinosis (TPP1)

Neuronal Ceroid-Lipofuscinosis (CLN5-Related) (CLN5)

Neuronal Ceroid-Lipofuscinosis (CLN6-Related) (CLN6)

Neuronal Ceroid-Lipofuscinosis (CLN8-Related) (CLN8)

Neuronal ceroid-lipofuscinosis (CTSD)

Neuronal ceroid-lipofuscinosis (CTSF)

Neuronal ceroid-lipofuscinosis (KCTD7)

Neuronal Ceroid-Lipofuscinosis (MFSD8-Related) (MFSD8)

Neuronal Ceroid-Lipofuscinosis (PPT1-Related) (PPT1)

Niemann-Pick Disease (SMPD1-Related) (SMPD1)

Niemann-Pick Disease, Type C1 (NPC1-Related) (NPC1)

Niemann-Pick Disease, Type C2 (NPC2-Related) (NPC2)

Nijmegen Breakage Syndrome (NBN)

Non-Syndromic Hearing Loss (GJB2-Related) (GJB2)

Normophosphatemic Familial Tumoral Calcinosis (SAMD9)

Oculocutaneous Albinism, Type IA / IB (TYR)

oculocutaneous albinism, type IV (SLC45A2)

Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A)

Omenn Syndrome (RAG2-Related) (RAG2)

Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type (DCLRE1C)

Omenn Syndrome and Other RAG1-related Disorders (RAG1)

Opitz GBBB Syndrome (MID1)

Ornithine Aminotransferase Deficiency (OAT)

Ornithine Transcarbomylase Deficiency (OTC)

Orofaciodigital syndrome XIV (C2CD3)

Osteogenesis imperfecta, autosomal recessive (BMP1)

Osteogenesis imperfecta, autosomal recessive (CRTAP)

Osteogenesis imperfecta, autosomal recessive (PLOD2)

Osteogenesis imperfecta, autosomal recessive (PPIB)

Osteogenesis imperfecta, autosomal recessive (SERPINF1)

Osteogenesis imperfecta, autosomal recessive (TMEM38B)

Osteogenesis imperfecta, autosomal recessive (WNT1)

Osteogenesis imperfecta, type VIII (P3H1)

osteogenesis imperfecta, type XI (FKBP10)

Osteopetrosis (OSTM1)

Osteopetrosis (TNFSF11)

Osteopetrosis 1 (TCIRG1)

osteopetrosis 8 (SNX10)

otospondylomegaepiphyseal dysplasia / deafness / fibrochondrogenesis 2 (COL11A2)

Papillon-Lefevre syndrome (CTSC)

Pelizaeus-Merzbacher disease / Spastic paraplegia 2, X-linked (PLP1)

Pendred Syndrome (SLC26A4)

Perlman syndrome (DIS3L2)

peroxisome biogenesis disorder 7A and 7B (PEX26)

Peroxisome Biogenesis Disorder, Type 3 (PEX12)

Perrault syndrome 4 (LARS2-related)

Persistent mullerian duct syndrome, type I (AMH)

Persistent mullerian duct syndrome, type II (AMHR2)

Phenylalanine Hydroxylase Deficiency (PAH)

Pitt-Hopkins-like syndrome 1 (CNTNAP2)

PLAA-related neurodevelopmental disorders (PLAA)

Polycystic Kidney Disease, Autosomal Recessive (PKHD1)

Polyglandular Autoimmune Syndrome, Type 1 (AIRE)

Pontocerebellar hypoplasia (AMPD2)

Pontocerebellar hypoplasia (CHMP1A)

Pontocerebellar hypoplasia (CLP1)

Pontocerebellar hypoplasia (TSEN2)

Pontocerebellar hypoplasia (TSEN34)

Pontocerebellar Hypoplasia, Type 1A (VRK1)

Pontocerebellar Hypoplasia, Type 1B (EXOSC3)

pontocerebellar hypoplasia, type 2A and type 4 (TSEN54)

Pontocerebellar Hypoplasia, Type 6 (RARS2)

Pontocerebellar hypoplasia, VPS53-related (VPS53)

Primary Carnitine Deficiency (SLC22A5)

Primary Ciliary Dyskinesia (CCDC103)

Primary Ciliary Dyskinesia (CCDC151)

Primary Ciliary Dyskinesia (CCDC39)

primary ciliary dyskinesia (DNAH11-related)

Primary Ciliary Dyskinesia (DNAH5-Related) (DNAH5)

Primary Ciliary Dyskinesia (DNAI1-Related) (DNAI1)

Primary Ciliary Dyskinesia (DNAI2-related) (DNAI2)

primary ciliary dyskinesia (RSPH9-related) (RSPH9)

Primary Ciliary Dyskinesia 16 (DNAL1)

Primary ciliary dyskinesia, type 30 (ODAD3)

Primary Coenzyme Q10 Deﬁciency 7 (COQ4)

Primary Congenital Glaucoma 3A (CYP1B1)

Primary Hyperoxaluria, Type 1 (AGXT)

Primary Hyperoxaluria, Type 2 (GRHPR)

Primary Hyperoxaluria, Type 3 (HOGA1)

Progressive Cerebello-Cerebral Atrophy (SEPSECS)

Progressive early onset encepahlopathy with brain atrophy and thin corpus callosum (TBCD)

Progressive familial intrahepatic cholestasis (ABCB4)

Progressive Familial Intrahepatic Cholestasis, Type 2 (ABCB11)

progressive myoclonic epilepsy, type 1B (PRICKLE1)

prolidase deficiency (PEPD)

Propionic Acidemia type 1 (PCCA-Related) (PCCA)

Propionic Acidemia type 2 (PCCB-Related) (PCCB)

Prothrombin Thrombophilia (F2)

Pseudocholinesterase Deficiency (BCHE)

Pseudoxanthoma elasticum (ABCC6)

Pycnodysostosis (CTSK)

pyridoxamine 5'-phosphate oxidase deficiency (PNPO)

pyridoxine-dependent epilepsy (ALDH7A1)

Pyruvate Carboxylase Deficiency (PC)

Pyruvate dehydrogenase deficiency (DLAT)

Pyruvate dehydrogenase deficiency (PDHX)

Pyruvate dehydrogenase deficiency (PDP1)

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHA1)

Pyruvate Dehydrogenase E1-Beta Deficiency (PDHB)

Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2)

Refsum disease (PHYH)

Renal tubular acidosis (SLC4A4)

Renal Tubular Acidosis and Deafness (ATP6V1B1)

Renal tubular acidosis with deafness (ATP6V0A4)

Retinitis Pigmentosa (CWC27)

Retinitis Pigmentosa (IFT140)

Retinitis Pigmentosa (MAK)

Retinitis Pigmentosa (RLBP1)

Retinitis Pigmentosa 25 (EYS)

Retinitis Pigmentosa 26 (CERKL)

Retinitis Pigmentosa 28 (FAM161A)

Retinitis pigmentosa 3 (RPGR)

retinitis pigmentosa 36 (PRCD)

Retinitis pigmentosa 43 (PDE6A)

Retinitis pigmentosa 45 (CNGB1)

Retinitis pigmentosa 46 (IDH3B)

Retinitis pigmentosa 47 (SAG)

Retinitis pigmentosa 49 (CNGA1)

Retinitis Pigmentosa 59 (DHDDS)

retinitis pigmentosa 64 / Bardet-Biedl syndrome 21 / cone-rod dystrophy 16 (C8ORF37)

Rh deficiency syndrome (RHAG)

Rhizomelic chondrodysplasia punctata (GNPAT)

Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7)

Rhizomelic Chondrodysplasia Punctata, Type 3 (AGPS)

Roberts Syndrome (ESCO2)

Salla Disease (SLC17A5)

salt and pepper developmental regression syndrome (ST3GAL5)

Sandhoff Disease (HEXB)

Schimke Immunoosseous Dysplasia (SMARCAL1)

Seckel syndrome 5 / microcephaly 9 (CEP152)

Segawa Syndrome (TH)

SELENON-related disorders (SELENON)

Senior-Loken syndrome 4 (NPHP4)

Senior-Loken syndrome 5 (IQCB1)

sepiapterin reductase deficiency (SPR)

severe combined immunodeficiency (IL7R-related) (IL7R)

Severe Combined Immunodeficiency (JAK3)

severe combined immunodeficiency (PTPRC-related) (PTPRC)

Severe combined immunodeficiency (SCID) (AK2)

Severe combined immunodeficiency (SCID) (CD247)

Severe combined immunodeficiency (SCID) (CD3G)

Severe combined immunodeficiency (SCID) (CD8A)

Severe combined immunodeficiency (SCID) (CORO1A)

Severe combined immunodeficiency (SCID) (DOCK8)

Severe combined immunodeficiency (SCID) (FOXN1)

Severe combined immunodeficiency (SCID) (IKBKB)

Severe combined immunodeficiency (SCID) (IL2RA)

Severe combined immunodeficiency (SCID) (LCK)

Severe combined immunodeficiency (SCID) (LIG4)

Severe combined immunodeficiency (SCID) (MALT1)

Severe combined immunodeficiency (SCID) (MTHFD1)

Severe combined immunodeficiency (SCID) (NHEJ1)

Severe combined immunodeficiency (SCID) (PGM3)

Severe combined immunodeficiency (SCID) (PNP)

Severe combined immunodeficiency (SCID) (PRKDC)

Severe combined immunodeficiency (SCID) (STK4)

Severe combined immunodeficiency (SCID) (TTC7A)

Severe combined immunodeficiency (SCID) (ZAP70)

severe congenital neutropenia 4 (G6PC3)

severe neonatal hyperparathyroidism (CASR)

short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (POC1A)

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency (ACADS)

Short-rib Thoracic Dysplasia 3 with or without polydactyly (DYNC2H1)

Shwachman-Diamond syndrome (SBDS)

sialidosis, type I and type II (NEU1)

Sitosterolemia 2 (ABCG5)

Sjogren-Larsson Syndrome (ALDH3A2)

Smith-Lemli-Opitz Syndrome (DHCR7)

Spastic paraplegia 11 (SPG11)

Spastic paraplegia 47 (AP4B1-related)

Spastic paraplegia 7 (SPG7)

Spastic Paraplegia, Type 15 (ZFYVE26)

spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4)

spherocytosis, type 5 (EPB42)

Spinal Muscular Atrophy (SMN1)

spinal muscular atrophy with respiratory distress 1 / Charcot-Marie-Tooth disease, type 2 (IGHMBP2)

spinocerebellar ataxia with axonal neuropathy 3 (COA7)

Spinocerebellar Ataxia, Autosomal Recessive 10 (ANO10)

spondylocostal dysostosis 1 (DLL3)

spondylometaepiphyseal dysplasia (DDR2-related) (DDR2)

Spondylothoracic Dysostosis (MESP2)

Stargardt Disease (ABCA4)

Steel Syndrome (COL27A1)

Stuve-Wiedemann Syndrome (LIFR)

Sulfate Transporter-Related Osteochondrodysplasia (SLC26A2)

Sulfite oxidase deficiency (SUOX)

Tay-Sachs Disease (HEXA)

Thalassemia Intermedia (HBA duplication)

Thiamine metabolism dysfunction syndrome 2 (SLC19A3)

thiamine-responsive megaloblastic anemia syndrome (SLC19A2)

Thyroid Dyshormonogenesis 1 (SLC5A5)

Thyroid Dyshormonogenesis 2A (TPO)

Thyroid Dyshormonogenesis 3 (TG)

thyroid dyshormonogenesis 4 (IYD)

thyroid dyshormonogenesis 5 (DUOXA2)

thyroid dyshormonogenesis 6 (DUOX2)

Trichohepatoenteric syndrome (SKIC3)

Trichohepatoenteric Syndrome 1 (TTC37)

Trichothiodystrophy 1 / Xeroderma Pigmentosum, Group D (ERCC2)

Trimethylaminuria (FMO3)

Tyrosinemia, Type I (FAH)

Tyrosinemia, Type II (TAT)

tyrosinemia, type III / hawkinsinuria (HPD)

Usher syndrome (CIB2)

Usher syndrome type 2A (USH2A)

Usher Syndrome Type IIC (ADGRV1)

Usher Syndrome, Type 1C (USH1C)

Usher syndrome, type 1G (USH1G)

Usher Syndrome, Type IB (MYO7A)

Usher Syndrome, Type ID (CDH23)

Usher Syndrome, Type IF (PCDH15)

Usher Syndrome, Type III (CLRN1)

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)

vitamin D-dependent rickets, type I (CYP27B1)

vitamin D-resistant rickets, type IIA (VDR)

Walker-Warburg Syndrome and Other FKTN-Related Dystrophies (FKTN)

Walker-Warburg Syndrome, POMT1-Related (POMT1)

Walker-Warburg Syndrome, POMT2-Related (POMT2)

Warsaw breakage syndrome (DDX11)

Werner syndrome (WRN)

Wilson Disease (ATP7B)

Wiskott-Aldrich Syndrome (WAS)

Wolcott-Rallison syndrome (EIF2AK3)

Wolman Disease / Cholesteryl Ester Storage Disease (LIPA)

Woodhouse-Sakati syndrome (DCAF17)

Xeroderma pigmentosum (DDB2)

Xeroderma pigmentosum (ERCC3)

Xeroderma pigmentosum (ERCC4)

xeroderma pigmentosum (POLH-related) (POLH)

Xeroderma Pigmentosum, Group A (XPA)

Xeroderma Pigmentosum, Group C (XPC)

xeroderma pigmentosum, group G (ERCC5)

X-linked heterotaxy-1 (ZIC3)

X-Linked Juvenile Retinoschisis (RS1)

X-Linked Severe Combined Immunodeficiency (IL2RG)

Zellweger spectrum disorder/ peroxisome biogenesis disorder (PEX11B)

Zellweger spectrum disorder/ peroxisome biogenesis disorder (PEX13)

Zellweger spectrum disorder/ peroxisome biogenesis disorder (PEX14)

Zellweger spectrum disorder/ peroxisome biogenesis disorder (PEX16)

Zellweger spectrum disorder/ peroxisome biogenesis disorder (PEX19)

Zellweger spectrum disorder/ peroxisome biogenesis disorder (PEX3)

Zellweger spectrum disorder/ peroxisome biogenesis disorder (PEX5)

Zellweger Syndrome Spectrum (PEX10-Related) (PEX10)

Zellweger Syndrome Spectrum (PEX1-Related) (PEX1)

Zellweger Syndrome Spectrum (PEX2-Related) (PEX2)

Zellweger Syndrome Spectrum (PEX6-Related) (PEX6)

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