3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency, HMGCL
3-Methylcrotonyl-CoA Carboxylase Deficiency 1, MCCC1
3-Methylcrotonyl-CoA Carboxylase Deficiency 2, MCCC2
3-Methylglutaconic Aciduria, Type 3 [Costeff Syndrome], OPA3
3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency, PTS
Abetalipoproteinemia, MTTP
Achondrogenesis, Type 1B, SLC26A2
Achromatopsia (CNGB3-related), CNGB3
Acute Infantile Liver Failure (TRMU-related), TRMU
Acyl-CoA Oxidase I Deficiency, ACOX1
Adrenoleukodystrophy, X-Linked, ABCD1
Aicardi-Goutières Syndrome, SAMHD1
Alpha Thalassemia, HBA1, HBA2 l
Alport Syndrome (COL4A3-related), COL4A3
Alport Syndrome, X-Linked, COL4A5
Alstrom Syndrome, ALMS1
Andermann Syndrome, SLC12A6
Argininosuccinate Lyase Deficiency, ASL
Aromatase Deficiency, CYP19A1
Arthrogryposis Mental Retardation Seizures, SLC35A3
Asparagine Synthetase Deficiency, ASNS
Aspartylglycosaminuria, AGA
Ataxia with Vitamin E Deficiency, TTPA
Ataxia-Telangiectasia, ATM
Autoimmune Polyglandular Syndrome, Type 1, AIRE
Autosomal Recessive Polycystic Kidney Disease, PKHD1
Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay, SACS
Bardet-Biedl Syndrome (BBS1-related), BBS1
Bardet-Biedl Syndrome 12, BBS12
Bare Lymphocyte Syndrome (CIITA-related), CIITA
Bartter Syndrome (BSND-related), BSND
Batten Disease (CLN3-related), CLN3
Beta Thalassemia, HBB l
Biotinidase Deficiency, BTD
Bloom Syndrome, BLM u
Canavan Disease, ASPA u
Carnitine Palmitoyltransferase IA Deficiency, CPT1A
Carnitine Palmitoyltransferase II Deficiency, CPT2
Carpenter Syndrome, RAB23
Cartilage-Hair Hypoplasia, RMRP
Cerebrotendinous Xanthomatosis, CYP27A1
Choreacanthocytosis, VPS13A
Choroideremia, X-Linked, CHM
Chronic Granulomatous Disease, X-Linked, CYBB
Citrin Deficiency, SLC25A13
Citrullinemia, Type 1, ASS1
Combined Malonic and Methylmalonic Aciduria, ACSF3
Combined Oxidative Phosphorylation Deficiency 1, GFM1
Combined Oxidative Phosphorylation Deficiency 3, TSFM
Combined Pituitary Hormone Deficiency 2, PROP1
Congenital Disorder of Glycosylation Type 1C, ALG6
Congenital Disorder of Glycosylation, Type 1A (PMM2- related), PMM2
Congenital Disorder of Glycosylation, Type 1B, MPI
Congenital Finnish Nephrosis, NPHS1
Congenital Insensitivity to Pain with Anhidrosis, NTRK1
Congenital Myasthenic Syndrome (CHRNE-related), CHRNE
Congenital Myasthenic Syndrome (RAPSN-related), RAPSN
Congenital Neutropenia (HAX1-related), HAX1
Congenital Neutropenia (VPS45-related), VPS45
Corneal Dystrophy and Perceptive Deafness, SLC4A11
Corticosterone Methyloxidase Deficiency, CYP11B2
CRB1-related Retinal Dystrophies, CRB1
Creatine Transporter Defect [Cerebral Creatine Deficiency Syndrome 1] X-Linked, SLC6A8
Crigler Najjar syndrome, Type I, UGT1A1
Cystic Fibrosis, CFTR l
Cystinosis, CTNS
D-Bifunctional Protein Deficiency, HSD17B4
Deafness, Autosomal Recessive 77, LOXHD1
Duchenne Muscular Dystrophy, X-linked, DMD l
Dystrophic Epidermolysis Bullosa (COL7A1-related), COL7A1
Ehlers-Danlos Syndrome, Type VIIC, ADAMTS
Emery-Dreifuss Muscular Dystrophy 1, X-Linked, EMD
Enhanced S-Cone Syndrome, NR2E3
Ethylmalonic Encephalopathy, ETHE1
Fabry Disease, X-Linked, GLA
Factor IX Deficiency, X-Linked, F9
Factor V Leiden Thrombophilia, F5
Factor XI Deficiency, F11
Familial Dysautonomia, IKBKAP u
Familial Hypercholesterolemia (LDLR-related), LDLR
Familial Mediterranean Fever, MEFV
Familial Nephrogenic Diabetes Insipidus (AQP2- related), AQP2
Fanconi Anemia, Type C, FANCC u
Fanconi Anemia, Type G, FANCG
Fragile X Syndrome, X-Linked, FMR1 l
Galactokinase Deficiency [Galactosemia, Type II], GALK1
Galactosemia, GALT u
Gaucher Disease, GBA u
Glutaric Acidemia, Type 1, GCDH
Glutaric Acidemia, Type 2A, ETFA
Glycine Encephalopathy (AMT-related), AMT
Glycine Encephalopathy (GLDC-related), GLDC
Glycogen Storage Disease, Type 1A, G6PC
Glycogen Storage Disease, Type 1B, SLC37A4
Glycogen Storage Disease, Type 2 [Pompe Disease], GAA
Glycogen Storage Disease, Type 3, AGL
Glycogen Storage Disease, Type 4, GBE1
Glycogen Storage Disease, Type 5 [McArdle Disease], PYGM
Glycogen Storage Disease, Type 7, PFKM
GRACILE Syndrome, BCS1L
Hemochromatosis, Type 2A, HFE2
Hemochromatosis, Type 3 (TFR2-related), TFR2
Hereditary Fructose Intolerance, ALDOB
Hermansky-Pudlak Syndrome (HPS1-related), HPS1
Hermansky-Pudlak Syndrome (HPS3-related), HPS3
Holocarboxylase Synthetase Deficiency, HLCS
Homocystinuria (CBS-related), CBS
Homocystinuria, Type cblE, MTRR
Hydrolethalus Syndrome, HYLS1
Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA
Hypophosphatasia (ALPL-related), ALPL
Inclusion Body Myopathy Type 2, GNE
Isovaleric Acidemia, IVD
Joubert Syndrome, Type 2, TMEM216
Junctional Epidermolysis Bullosa, Herlitz type, LAMC2
Juvenile Retinoschisis, X-Linked, RS1
Krabbe Disease, GALC
Lamellar Ichthyosis, Type 1, TGM1
Leber Congenital Amaurosis (LCA5-related), LCA5
Leber Congenital Amaurosis, Type CEP290, CEP290
Leigh Syndrome, French-Canadian Type, LRPPRC
Leukoencephalopathy with Vanishing White Matter, EIF2B5
Leydig Cell Hypoplasia [Luteinizing Hormone Resistance], LHCGR
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 2C, SGCG
Limb-Girdle Muscular Dystrophy, Type 2D, SGCA
Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3], DLD
Lipoid Adrenal Hyperplasia, STAR
Lipoprotein Lipase Deficiency, LPL
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, HADHA
Lysinuric Protein Intolerance, SLC7A7
Maple Syrup Urine Disease, Type 1B, BCKDHB
Meckel-Gruber Syndrome, Type 1, MKS1
Medium Chain Acyl-CoA Dehydrogenase Deficiency, ACADM u
Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1
Metachromatic Leukodystrophy (ARSA-related), ARSA
Metachromatic Leukodystrophy (PSAP-related) PSAP
Methylmalonic Aciduria (MMAA-related), MMAA
Methylmalonic Aciduria (MMAB-related), MMAB
Methylmalonic Aciduria and Homocystinuria, Type cblC, MMACHC
Methylmalonic Aciduria and Homocystinuria, Type cblD, MMADHC
Methylmalonic Aciduria, Type mut(0), MUT
Microphthalmia/Anophthalmia (VSX2-related), VSX2
Mitochondrial Complex 1 Deficiency (ACAD9-related), ACAD9
Mitochondrial Complex 1 Deficiency (NDUFAF5- related), NDUFAF5
Mitochondrial Complex 1 Deficiency (NDUFS6-related), NDUFS6
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1), PUS1
Mucolipidosis II/III, GNPTAB
Mucolipidosis III Gamma, GNPTG
Mucolipidosis, Type IV, MCOLN1 u
Mucopolysaccharidosis IIID [Sanfilippo D], GNS
Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked, IDS
Mucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU
Mucopolysaccharidosis, Type IIIC [Sanfilippo C], HGSNAT
Mucopolysaccharidosis, Type IX, HYAL1
Multiple Sulfatase Deficiency, SUMF1
Myoneurogastrointestinal Encephalopathy (MNGIE), TYMP
Myotubular Myopathy, X-Linked, MTM1
N-acetylglutamate Synthase Deficiency, NAGS
Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome], MPV17
Neurological Ceroid Lipofuscinosis, TPP1-related, TPP1
Neuronal Ceroid Lipofuscinosis (CLN5-related), 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
Niemann-Pick Disease, Type C1/D, NPC1
Niemann-Pick Disease, Type C2, NPC2
Niemann-Pick Disease, Types A/B, SMPD1 u
Nijmegen Breakage Syndrome, NBN
Non-Syndromic Hearing Loss (GJB2-related), GJB2
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz- Passarge Syndrome, WNT10A
Omenn Syndrome, RAG2-related, RAG2
Ornithine Aminotransferase Deficiency, OAT
Ornithine Transcarbamylase Deficiency, OTC
Ornithine Translocase Deficiency [Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome], SLC25A15
Pendred Syndrome, SLC26A4
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related), PEX1
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related), PEX2
Phenylketonurea, PAH u
Pituitary Hormone Deficiency, Combined 3, LHX3
Pontocerebellar Hypoplasia, RARS2-related, RARS2
Pontocerebellar Hypoplasia, Type 1A, VRK1
Pontocerebellar Hypoplasia, Type 2D, SEPSECS
Pontocerebellar Hypoplasia, Type 2E, VPS53
Primary Ciliary Dyskinesia (DNAH5-related), DNAH5
Primary Ciliary Dyskinesia, DNAI1-related, DNAI1
Primary Ciliary Dyskinesia, DNAI2-related, DNAI2
Primary Hyperoxaluria, Type 1, AGXT
Primary Hyperoxaluria, Type 2, GRHPR
Primary Hyperoxaluria, Type 3, HOGA1
Pycnodysostosis, CTSK
Pyruvate Dehydrogenase Deficiency (PDHB-related), PDHB
Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1
Renal Tubular Acidosis and Deafness (ATP6V1B1- related), ATP6V1B
Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy], RLBP
Retinitis Pigmentosa 25 (EYS-related), EYS
Retinitis Pigmentosa 26, CERKL
Retinitis Pigmentosa 28, FAM161A
Retinitis Pigmentosa 59 (DHDDS-related), DHDDS
Retinitis Pigmentosa, X-linked, RPGR
Rhizomelic Chondrodysplasia Punctata, Type 1, PEX7
Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS
Roberts Syndrome, ESCO2
Salla Disease, SLC17A5
Sandhoff Disease, HEXB
Schimke Immunoosseous Dysplasia, SMARCAL1
Segawa Syndrome, TH-related, TH
Severe Combined Immunodeficiency, Type Athabaskan, DCLRE1C
Severe Combined Immunodeficiency, X-Linked, IL2RG
Sickle-Cell Disease, HBB l
Sjögren-Larsson Syndrome, ALDH3A2
Smith-Lemli-Opitz Syndrome, DHCR7 u
Spinal Muscular Atrophy, SMN1, SMN2 l
Steroid-Resistant Nephrotic Syndrome, NPHS2
Stuve-Wiedemann Syndrome, LIFR
Tay-Sachs Disease, HEXA u
Tyrosinemia, Type 1, FAH
Usher Syndrome, Type 1C, USH1C
Usher Syndrome, Type 1F, PCDH15
Usher Syndrome, Type 2A, USH2A
Usher Syndrome, Type 3, CLRN1
Wilson Disease, ATP7B
Wolman Disease, LIPA
Zellweger Spectrum Disorders (PEX10-related), PEX10