Alpha-thalassemia (HBA1/HBA2)

Beta hemoglobinopathies (HBB)

Bloom syndrome (BLM)

Canavan disease (ASPA)

Cystic fibrosis (CFTR)

Dihydrolipoamide dehydrogenase deficiency (DLD)

Familial dysautonomia (ELP1; aka, IKBKAP)

Familial hyperinsulinism, ABCC8-related(ABCC8)

Fanconi anemia, Group C (FANCC)

Fragile X syndrome^d (FMR1)

Gaucher disease (GBA)

Glycogen storage disease, type Ia (G6PC; aka, G6PC1)

Joubert syndrome 2 (TMEM216)

Maple syrup urine disease, type 1B (BCKDHB)

Mucolipidosis, type IV (MCOLN1)

Nemaline myopathy 2 (NEB)

Niemann-Pick disease, types A/B (SMPD1)

Spinal muscular atrophy (SMN1)

Tay-Sachs disease (HEXA)

Usher syndrome, type 1F (PCDH15)

Usher syndrome, type 3A (CLRN1)

Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN)

Abetalipoproteinemia (MTTP)

Adrenoleukodystrophy, X-linked^d (ABCD1)

Argininosuccinic aciduria (ASL)

Ataxia-telangiectasia (ATM)

Autosomal recessive polycystic kidney disease (PKHD1)

Bardet-Biedl syndrome 1 (BBS1)

Bardet-Biedl syndrome 2 (BBS2)

Biotinidase deficiency (BTD)

Carnitine palmitoyltransferase II deficiency (CPT2)

Cerebrotendinous xanthomatosis (CYP27A1)

Citrullinemia, type I (ASS1)

Combined pituitary hormone deficiency, type 2 (PROP1)

Congenital amegakaryocytic thrombocytopenia (MPL)

Congenital disorder of glycosylation, type Ia (PMM2)

Cystinosis (CTNS)

D-bifunctional protein deficiency (HSD17B4)

Factor XI deficiency / Hemophilia C (F11)

Familial Mediterranean fever (MEFV)

Galactosemia (GALT)

Glutaric acidemia, type I (GCDH)

Glycogen storage disease, type II / Pompe disease (GAA)

Glycogen storage disease, type III (AGL)

Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1)

GRACILE syndrome (BCS1L)

Hereditary fructose intolerance (ALDOB)

Hermansky-Pudlak syndrome, type 1 (HPS1)

Hermansky-Pudlak syndrome, type 3 (HPS3)

Hypophosphatasia (ALPL)

Krabbe disease (GALC)

Limb-girdle muscular dystrophy, type 2A (CAPN3)

Limb-girdle muscular dystrophy, type 3 (SGCA)

Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA)

Maple syrup urine disease, type 1A (BCKDHA)

Medium chain acyl-CoA dehydrogenase deficiency (ACADM)

Metachromatic leukodystrophy, ARSA-related (ARSA)

Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC)

Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB)

Mucopolysaccharidosis, type I / Hurler syndrome (IDUA)

Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH)

Steroid resistant nephrotic syndrome, type 1 (NPHS1)

Neuronal ceroid lipofuscinosis, CLN3-related (CLN3)

Neuronal ceroid lipofuscinosis, CLN5-related (CLN5)

Neuronal ceroid lipofuscinosis, CLN8-related (CLN8)

Neuronal ceroid lipofuscinosis, PPT1-related (PPT1)

Neuronal ceroid lipofuscinosis, TPP1-related (TPP1)

Nijmegen breakage syndrome (NBN)

Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2)

Ornithine transcarbamylase deficiency, X-linked^d (OTC)

Pendred syndrome (SLC26A4)

Phenylalanine hydroxylase deficiency (PAH)

Primary hyperoxaluria, type I (AGXT)

Propionic acidemia, PCCA-related (PCCA)

Propionic acidemia, PCCB-related (PCCB)

Sjögren-Larsson syndrome (ALDH3A2)

Skeletal dysplasias, SLC26A2-related (SLC26A2)

Smith-Lemli-Opitz syndrome (DHCR7)

Carnitine deficiency, systemic primary (SLC22A5)

Tyrosinemia, type I (FAH)

Usher syndrome, type 2A (USH2A)

Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL)

Wilson disease (ATP7B)

Zellweger spectrum disorders, PEX2-related (PEX2)

Beta-ketothiolase deficiency (ACAT1)

3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1)

3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2)

6-pyruvoyl-tetrahydropterin synthase deficiency (PTS)

Adenosine deaminase deficiency (ADA)

Alpha-mannosidosis (MAN2B1)

Alport syndrome, COL4A3-related (COL4A3)

Alport syndrome, COL4A4-related (COL4A4)

Alport syndrome, COL4A5-related, X-linked^d (COL4A5)

Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6)

Arthrogryposis, mental retardation, and seizures (SLC35A3)

Aspartylglycosaminuria (AGA)

Menkes disease^d (ATP7A)

Autoimmune polyglandular syndrome, type 1 (AIRE)

Spastic ataxia, Charlevoix-Saguenay type (SACS)

Bardet-Biedl syndrome 10 (BBS10)

Cartilage-hair hypoplasia (RMRP)

LAMA2 muscular dystrophy (LAMA2)

Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1)

Dyskeratosis congenita, RTEL1-related (RTEL1)

Fanconi anemia, Group A (FANCA)

Glycine encephalopathy, AMT-related (AMT)

Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC)

Glycogen storage disease, type Ib / IIw (SLC37A4)

GLB1-related disorders (GLB1)

3-hydroxy-3-methylglutaryl-coA lyase deficiency (HMGCL)

Holocarboxylase synthetase deficiency (HLCS)

Homocystinuria, CBS-related (CBS)

Hydrolethalus syndrome (HYLS1)

GNE myopathy (GNE)

Infantile cerebral and cerebellar atrophy (MED17)

Isovaleric acidemia (IVD)

Junctional epidermolysis bullosa, LAMA3-related (LAMA3)

Junctional epidermolysis bullosa, LAMB3-related (LAMB3)

Junctional epidermolysis bullosa, LAMC2-related (LAMC2)

Autosomal recessive congenital ichthyosis 1 (TGM1)

CEP290-related conditions (CEP290)

Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC)

Lethal congenital contracture syndrome 1 (GLE1)

Limb-girdle muscular dystrophy, type 4 (SGCB)

Lysinuric protein intolerance (SLC7A7)

Maple syrup urine disease, type 2 (DBT)

Methylmalonic aciduria, MMAA-related (MMAA)

Methylmalonic aciduria, MMAB-related (MMAB)

Methylmalonic aciduria, MUT-related (MMUT; aka, MUT)

Mucopolysaccharidosis, type II / Hunter syndrome^d(IDS)

Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU)

Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT)

Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS)

Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB)

Neuronal ceroid lipofuscinosis, CLN6-related (CLN6)

Niemann-Pick disease, type C1 (NPC1)

Pyruvate carboxylase deficiency (PC)

Retinitis pigmentosa 59 (DHDDS)

Rhizomelic chondrodysplasia punctata, type 1 (PEX7)

Sandhoff disease (HEXB)

Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2)

Steroid-resistant nephrotic syndrome, type 2 (NPHS2)

Tyrosine hydroxylase deficiency (TH)

Tyrosinemia, type II (TAT)

Usher syndrome, type 1B (MYO7A)

Usher syndrome, type 1C (USH1C)

Usher syndrome, type 1D (CDH23)

Zellweger spectrum disorders, PEX1-related (PEX1)

Zellweger spectrum disorders, PEX6-related (PEX6)

17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3)

3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2)

3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)

3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3)

Phosphoglycerate dehydrogenase deficiency (PHGDH)

Achromatopsia, CNGB3-related (CNGB3)

Acrodermatitis enteropathica (SLC39A4)

Action myoclonus renal failure syndrome (SCARB2)

Acute infantile liver failure (TRMU)

Peroxisomal acyl-CoA oxidase deficiency (ACOX1)

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1)

X-linked agammaglobulinemia^d (BTK)

Aicardi-Goutieres syndrome 2 (RNASEH2B)

Aicardi-Goutieres syndrome 3 (RNASEH2C)

Aicardi-Goutieres syndrome 4 (RNASEH2A)

Aicardi-Goutieres syndrome 5 (SAMHD1)

Alpha-1 antitrypsin deficiency (SERPINA1)

Alpha-thalassemia intellectual disability syndrome, X-linked^d (ATRX)

Alstrom Syndrome (ALMS1)

Amish infantile epilepsy syndrome (ST3GAL5)

Argininemia (ARG1)

Aromatase deficiency (CYP19A1)

PRPS1-related disorders^d (PRPS1)

Asparagine synthetase deficiency (ASNS)

Ataxia with isolated vitamin E deficiency (TTPA)

Ataxia-telangiectasia-like disorder 1 (MRE11)

Bardet-Biedl syndrome 4 (BBS4)

Bardet-Biedl syndrome 6 (MKKS)

Bardet-Biedl syndrome 7 (BBS7)

Bardet-Biedl syndrome 8 (TTC8)

Bardet-Biedl syndrome 9 (BBS9)

Bardet-Biedl syndrome 12 (BBS12)

Bare lymphocyte syndrome, type II (CIITA)

Barth syndrome^d (TAFAZZIN; aka, TAZ)

Bartter syndrome, type 4A(BSND)

Bernard-Soulier syndrome, type A (GP1BA)

Bernard-Soulier syndrome, type C (GP9)

Beta-ureidopropionase deficiency (UPB1)

Bilateral frontoparietal polymicrogyria (ADGRG1)

Carbamoyl phosphate synthetase I deficiency (CPS1)

Carnitine palmitoyltransferase I deficiency (CPT1A)

Carnitine-acylcarnitine translocase deficiency (SLC25A20)

Carpenter syndrome (RAB23)

Neuronal ceroid lipofuscinosis, CTSD-related (CTSD)

Charcot-Marie-Tooth disease, type 1, X-linked^d (GJB1)

Charcot-Marie-Tooth disease, type 4D (NDRG1)

Chediak-Higashi syndrome (LYST)

Progressive familial intrahepatic cholestasis 1 (PFIC1) and benign familial intrahepatic cholestasis 1 (BRIC1) (ATP8B1)

Cholestasis, progressive familial intrahepatic 4 (TJP2)

Lysosomal acid lipase deficiency (LIPA)

Choreoacanthocytosis (VPS13A)

Choroideremia, X-linked^d (CHM)

Chronic granulomatous disease 4 (CYBA)

Chronic granulomatous disease, X-linked^d (CYBB)

Ciliopathies, RPGRIP1L-related (RPGRIP1L)

Citrin deficiency / Citrullinemia, type II (SLC25A13)

Cockayne syndrome, type A (ERCC8)

Cohen syndrome (VPS13B)

Combined malonic and methylmalonic aciduria (ACSF3)

Combined oxidative phosphorylation deficiency 3 (TSFM)

Combined oxidative phosphorylation deficiency 1 (GFM1)

Combined oxidative phosphorylation deficiency 6^d (AIFM1)

Combined pituitary hormone deficiency, type 3 (LHX3)

Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1)

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2)

Congenital disorder of glycosylation, type Ib (MPI)

Congenital disorder of glycosylation, type Ic (ALG6)

Congenital ichthyosis, ABCA12-related (ABCA12)

Congenital insensitivity to pain with anhidrosis (NTRK1)

Lipoid congenital adrenal hyperplasia (STAR)

Congenital muscular dystrophy-dystroglycanopathy 1 (POMT1)

Congenital myasthenic syndrome, CHAT-related (CHAT)

Congenital myasthenic syndrome, CHRNE-related (CHRNE)

Congenital myasthenic syndrome, DOK7-related (DOK7)

Congenital myasthenic syndrome, RAPSN-related (RAPSN)

Congenital neutropenia, HAX1-related (HAX1)

Severe congenital neutropenia 5 (VPS45)

Corneal dystrophy and perceptive deafness syndrome (SLC4A11)

Corticosterone methyloxidase deficiency (CYP11B2)

L1 syndrome^d (L1CAM)

CRB1-related retinal dystrophies (CRB1)

Creatine Transporter Defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome^d (SLC6A8)

Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6)

Usher syndrome, type 1J (CIB2)

Dent disease^d (CLCN5)

Desbuquois dysplasia, type I (CANT1)

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

Dihydropyrimidine dehydrogenase deficiency (DPYD)

Duchenne/Becker muscular dystrophy, X-linked^d (DMD)

Dyskeratosis congenita, X-linked^d (DKC1)

Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1)

Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2)

Ellis-van Creveld syndrome (EVC2)

Ellis-van Creveld syndrome (EVC)

Emery-Dreifuss muscular dystrophy, X-linked^d (EMD)

Enhanced S-cone syndrome (NR2E3)

Ethylmalonic encephalopathy (ETHE1)

Fabry disease, X-linked^d (GLA)

Familial hemophagocytic lymphohistiocytosis 2 (PRF1)

Familial hemophagocytic lymphohistiocytosis 4 (STX11)

Familial hemophagocytic lymphohistiocytosis 5 (STXBP2)

Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1)

Familial hypercholesterolemia, LDLR-related (LDLR)

Fanconi anemia, Group B^d (FANCB)

Fanconi anemia, Group D2 (FANCD2)

Fanconi anemia, Group E (FANCE)

Fanconi anemia, Group F (FANCF)

Fanconi anemia, Group G (FANCG)

Fanconi anemia, Group I (FANCI)

Fanconi anemia, Group L (FANCL)

Farber lipogranulomatosis (ASAH1)

Fumarate hydratase deficiency (FH)

GABA-transaminase deficiency (ABAT)

Galactosemia, type II / Galactokinase deficiency (GALK1)

Galactosialidosis (CTSA)

Gitelman syndrome (SLC12A3)

Glucose-6-phosphate dehydrogenase deficiency^d (G6PD)

Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA)

Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFDH)

Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFB)

Glycogen storage disease, type V (PYGM)

Glycogen storage disease, type VII (PFKM)

Guanidinoacetate methyltransferase deficiency (GAMT)

Factor IX deficiency / Hemophilia B^d (F9)

MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17)

Hereditary hemochromatosis, type 2 (HJV)

Hereditary hemochromatosis, type 3 (TFR2)

TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2)

Hermansky-Pudlak syndrome, type 2 (AP3B1)

Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR)

Homocystinuria, type cblE (MTRR)

HPRT1-related disorders^d (HPRT1)

Hermansky-Pudlak syndrome, type 4 (HPS4)

Hyperphosphatemic familial tumoral calcinosis (GALNT3)

Hypohidrotic ectodermal dysplasia, X-linked^d (EDA)

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked^d (FOXP3)

PLA2G6-associated neurodegeneration (PLA2G6)

X-linked infantile spinal muscular atrophy^d (UBA1)

Johanson-Blizzard syndrome (UBR1)

Joubert syndrome 1 (INPP5E)

Joubert syndrome 15 (CEP41)

Joubert syndrome 21 (CSPP1)

Joubert syndrome 25 (CEP104)

Joubert syndrome 27 (B9D1)

Joubert syndrome 3 (AHI1)

Joubert syndrome 31 (CEP120)

Joubert syndrome 34 (B9D2)

Joubert syndrome 8 (ARL13B)

Nephronophthisis 2 (INVS)

NPHP1 nephronophthisis-related ciliopathies (NPHP1)

Juvenile retinoschisis, X-linked^d (RS1)

Leber congenital amaurosis 5 (LCA5)

Leber congenital amaurosis 2 (RPE65)

Leber congenital amaurosis 13 (RDH12)

Leukoencephalopathy with vanishing white matter (EIF2B5)

Limb-girdle muscular dystrophy, type 2B (DYSF)

Limb-girdle muscular dystrophy, type 5 (SGCG)

Limb-girdle muscular dystrophy, type 6 (SGCD)

Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy 5 (FKRP)

Lipoprotein lipase deficiency (LPL)

X-linked developmental disorders, ARX-related^d (ARX)

Lowe syndrome, X-linked^d (OCRL)

Malonyl-CoA decarboxylase deficiency (MLYCD)

Joubert syndrome 9 (CC2D2A)

MEDNIK syndrome (AP1S1)

Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)

Metachromatic leukodystrophy due to saposin B deficiency (PSAP)

Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC)

Micropthalmia / Anopthalmia (VSX2)

Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5)

Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6)

Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4)

Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6)

Mitochondrial complex IV deficiency, nuclear type 12 (PET100)

Myopathy, lactic acidosis, and sideroblastic anemia (PUS1)

Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB)

MKS1-related disorders (MKS1)

Molybdenum cofactor deficiency of complementation group A (MOCS1)

Mucolipidosis III gamma (GNPTG)

Mucopolysaccharidosis, type IVA / Morquio syndrome (GALNS)

Mucopolysaccharidosis, type VII / Sly syndrome (GUSB)

Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1)

Mulibrey nanism (TRIM37)

Multiple pterygium syndrome, lethal type (CHRNG)

Multiple sulfatase deficiency (SUMF1)

Muscular dystrophy-dystroglycanopathy 3 (POMGNT1)

Muscular dystrophy-dystroglycanopathy 7 (CRPPA)

Muscular dystrophy-dystroglycanopathy 6 (LARGE1)

Muscular dystrophy-dystroglycanopathy 2 (POMT2)

Congenital myasthenic syndrome, COLQ-related (COLQ)

Mitochondrial neurogastrointestinal encephalopathy (TYMP)

X-linked myotubular myopathy^d (MTM1)

Nephrogenic diabetes insipidus (AQP2)

Steroid-resistant nephrotic syndrome, type 3 (PLCE1)

Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8)

Niemann-Pick disease, type C2 (NPC2)

N-acetylglutamate synthase deficiency (NAGS)

Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A)

Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A)

Omenn syndrome (DCLRE1C)

Severe combined immunodeficiency, RAG2-related (RAG2)

Ornithine aminotransferase deficiency (OAT)

Ornithine translocase deficiency (SLC25A15)

Joubert syndrome 17 (CPLANE1)

Orofaciodigital syndrome XIV (C2CD3)

Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1)

Perlman syndrome (DIS3L2)

Zellweger spectrum disorders, PEX12-related (PEX12)

POLG-related disorders (POLG)

Pontocerebellar hypoplasia, type 1B (EXOSC3)

Pontocerebellar hypoplasia, type 2B (TSEN2)

Pontocerebellar hypoplasia, type 4 and 2A (TSEN54)

Pontocerebellar hypoplasia, type 6 (RARS2)

Pontocerebellar hypoplasia, type 2E (VPS53)

Pontocerebellar hypoplasia, type 1A (VRK1)

Primary ciliary dyskinesia, DNAH5-related (DNAH5)

Primary ciliary dyskinesia, DNAI1-related (DNAI1)

Primary ciliary dyskinesia, DNAI2-related (DNAI2)

Primary congenital glaucoma (CYP1B1)

Primary hyperoxaluria, type II (GRHPR)

Primary hyperoxaluria, type III (HOGA1)

Progressive cerebello-cerebral atrophy (SEPSECS)

Progressive familial intrahepatic cholestastasis, type 2 (ABCB11)

Prolidase deficiency (PEPD)

Pseudocholinesterase deficiency (BCHE)

Pseudoxanthoma elasticum (ABCC6)

Pycnodysostosis (CTSK)

Pyridoxine-dependent epilepsy (ALDH7A1)

Pyruvate dehydrogenase E1-alpha deficiency^d (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-related (ATP6V1B1)

NPHP3 nephronophthisis-related ciliopathies (NPHP3)

Retinitis pigmentosa 25 (EYS)

Retinitis pigmentosa 26 (CERKL)

Retinitis pigmentosa 28 (FAM161A)

Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)

Rhizomelic chondrodysplasia punctata, type 3 (AGPS)

Mitochondrial complex I deficiency, ACAD9-related (ACAD9)

Roberts-SC phocomelia syndrome (ESCO2)

Free sialic acid storage disorders (SLC17A5)

Schimke immunoosseous dysplasia (SMARCAL1)

NPHP4 nephronophthisis-related ciliopathies (NPHP4)

Severe combined immunodeficiency, X-linked^d (IL2RG)

Shwachman-Diamond syndrome (SBDS)

Sialidosis (NEU1)

Spastic paraplegia, type 15 (ZFYVE26)

WWOX deficiency (WWOX)

Steel syndrome (COL27A1)

Stuve-Wiedemann syndrome (LIFR)

Severe combined immunodeficiency, RAG1-related (RAG1)

Trichohepatoenteric syndrome 1 (TTC37)

ERCC2-related conditions (ERCC2)

Triple A syndrome (AAAS)

Usher syndrome, type 2C (ADGRV1)

Vitamin D-dependent rickets, type 1A (CYP27B1)

Werner syndrome (WRN)

Wiskott-Aldrich syndrome, X-linked^d (WAS)

Wolcott-Rallison syndrome (EIF2AK3)

Xeroderma pigmentosum, group A (XPA)

Xeroderma pigmentosum, group C (XPC)

X-linked chondrodysplasia punctata 1^d (ARSL)

X-linked congenital adrenal hypoplasia^d (NR0B1)

X-linked heterotaxy-1^d (ZIC3)

X-Linked Hyper IgM Syndrome^d (CD40LG)

DCX-related disorders^d (DCX)

Zellweger spectrum disorders, PEX26-related (PEX26)

Zellweger spectrum disorders, PEX10-related (PEX10)