Abetalipoproteinemia (MTTP)
Adrenoleukodystrophy, X-linkedd (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-linkedd (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-linkedd (COL4A5)
Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6)
Arthrogryposis, mental retardation, and seizures (SLC35A3)
Aspartylglycosaminuria (AGA)
Menkes diseased (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 syndromed(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 agammaglobulinemiad (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-linkedd (ATRX)
Alstrom Syndrome (ALMS1)
Amish infantile epilepsy syndrome (ST3GAL5)
Argininemia (ARG1)
Aromatase deficiency (CYP19A1)
PRPS1-related disordersd (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 syndromed (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-linkedd (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-linkedd (CHM)
Chronic granulomatous disease 4 (CYBA)
Chronic granulomatous disease, X-linkedd (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 6d (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 syndromed (L1CAM)
CRB1-related retinal dystrophies (CRB1)
Creatine Transporter Defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndromed (SLC6A8)
Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6)
Usher syndrome, type 1J (CIB2)
Dent diseased (CLCN5)
Desbuquois dysplasia, type I (CANT1)
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4)
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Duchenne/Becker muscular dystrophy, X-linkedd (DMD)
Dyskeratosis congenita, X-linkedd (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-linkedd (EMD)
Enhanced S-cone syndrome (NR2E3)
Ethylmalonic encephalopathy (ETHE1)
Fabry disease, X-linkedd (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 Bd (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 deficiencyd (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 Bd (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 disordersd (HPRT1)
Hermansky-Pudlak syndrome, type 4 (HPS4)
Hyperphosphatemic familial tumoral calcinosis (GALNT3)
Hypohidrotic ectodermal dysplasia, X-linkedd (EDA)
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linkedd (FOXP3)
PLA2G6-associated neurodegeneration (PLA2G6)
X-linked infantile spinal muscular atrophyd (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-linkedd (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-relatedd (ARX)
Lowe syndrome, X-linkedd (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 myopathyd (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 deficiencyd (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-linkedd (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-linkedd (WAS)
Wolcott-Rallison syndrome (EIF2AK3)
Xeroderma pigmentosum, group A (XPA)
Xeroderma pigmentosum, group C (XPC)
X-linked chondrodysplasia punctata 1d (ARSL)
X-linked congenital adrenal hypoplasiad (NR0B1)
X-linked heterotaxy-1d (ZIC3)
X-Linked Hyper IgM Syndromed (CD40LG)
DCX-related disordersd (DCX)
Zellweger spectrum disorders, PEX26-related (PEX26)
Zellweger spectrum disorders, PEX10-related (PEX10)