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3-Hydroxy-3-Methylglutaryl CoA (HMG-CoA) lyase Deficiency (HMGCL)	Infantile neuroaxonal dystrophy 1 (PLA2G6)
3-phosphoglycerate dehydrogenase deficiency (PHGDH)	Isovaleric Acidemia (IVD)
Abetalipoproteinaemia (MTTP)	Joubert Syndrome, TMEM216 Related (TMEM216)
Adenosine Deaminase Deficiency (ADA)	Juvenile Nephronophthisis (NPHP1)
Adrenoleukodystrophy (ABCD1)	Krabbe Disease (GALC)
Alpha-1-Antitrypsin Deficiency (SERPINA1)	Leigh Syndrome: French-Canadian Type (LRPPRC)
Alpha-Mannosidosis (MAN2B1)	Leukoencephalopathy with Vanishing White Matter, EIF2B5 Related (EIF2B5)
Alpha-Thalassemia (HBA1/HBA2)	Limb-Girdle Muscular Dystrophy, Type 2A (CAPN3)
Alport syndrome (COL4A3)	Limb-Girdle Muscular Dystrophy, Type 2C (SGCG)
Angelman syndrome (UBE3A)	Limb-Girdle Muscular Dystrophy, Type 2D (SGCA)
Argininosuccinate Lyase Deficiency (ASL)	Limb-Girdle Muscular Dystrophy, Type 2E (SGCB)
Arthrogryposis, mental retardation and seizures (SLC35A3)	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)
Aspartylglucosaminuria (AGA)	Lowe syndrome (OCRL)
Ataxia with Vitamin E Deficiency (TTPA)	Lysinuric Protein Intolerance (SLC7A7)
Ataxia-Telangiectasia (ATM)	Maple syrup urine disease (MSUD) type 1A (BCKDHA)
Atelosteogenesis Type 2 (SLC26A2)	Maple syrup urine disease (MSUD) type II (DBT)
Autosomal Recessive Congenital Ichthyosis, TGM1 Related (TGM1)	Maple Syrup Urine Disease: Type 1B (BCKDHB)
Autosomal Recessive Polycystic Kidney Disease (PKHD1)	MECP2 duplication syndrome (MECP2)
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)	Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
Bardet-Biedl syndrome (BBS2)	Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1 Related (MLC1)
Bardet-Biedl Syndrome: BBS1 Related (BBS1)	Metachromatic Leukodystrophy (ARSA)
Bardet-Biedl Syndrome: BBS10 Related (BBS10)	Methylmalonic Aciduria and Homocystinuria: Type cblC (MMACHC)
Beta Hemoglobinopathies (Beta-thalassemia and Sickle Cell) (HBB)	Mucolipidosis II (GNPTAB)
BH4-Deficient Hyperphenylalaninemia A (PTS)	Mucolipidosis IV (MCOLN1)
Biotinidase Deficiency (BTD)	Mucopolysaccharidosis Type I (IDUA)
Bloom Syndrome (BLM)	Mucopolysaccharidosis, Type IIIA (Sanfilippo Syndrome A) (SGSH)
Canavan Disease (ASPA)	Multiple sulphatase deficiency (SUMF1)
Carnitine Palmitoyltransferase IA Deficiency (CPT1A)	Muscle-Eye-Brain Disease (POMGNT1)
Carnitine Palmitoyltransferase II Deficiency (CPT2)	Nemaline Myopathy: NEB Related (NEB)
Cartilage-Hair Hypoplasia (RMRP)	Nephrotic Syndrome: Type 1 (NPHS1)
Cerebrotendinous Xanthomatosis (CYP27A1)	Nephrotic Syndrome: Type2 (NPHS2)
Chronic granulomatous disease (CYBB)	Neuronal Ceroid Lipofuscinosis, CLN3-Related (CLN3)
Citrin Deficiency (SLC25A13)	Neuronal Ceroid Lipofuscinosis, CLN5-Related (CLN5)
Citrullinemia Type I (ASS1)	Neuronal Ceroid Lipofuscinosis, CLN6-Related (CLN6)
Congenital Amegakaryocytic Thrombocytopenia (MPL)	Neuronal Ceroid Lipofuscinosis, CLN8-Related (CLN8)
Congenital Disorder of Glycosylation: Type Ia (PMM2)	Neuronal Ceroid Lipofuscinosis, PPT1-Related (PPT1)
Congenital Disorder of Glycosylation: Type Ib (MPI)	Neuronal Ceroid Lipofuscinosis, TPP1-Related (TPP1)
Congenital Myasthenic Syndrome, CHRNE-Related (CHRNE)	Niemann-Pick Disease, Type A (SMPD1)
Congenital Myasthenic Syndrome, DOK7-Related (DOK7 )	Niemann-Pick Disease, Type C (NPC1)
Congenital Myasthenic Syndrome, RAPSN-Related (RAPSN)	Nijmegen Breakage Syndrome (NBN)
Congenital Myasthenic Syndrome, CHAT-Related (CHAT)	Nonsyndromic Hearing Loss and Deafness, DFNB1: GJB2 related (GJB2)
Crigler-Najjar Syndrome (UGT1A1)	Nonsyndromic Hearing Loss and Deafness: DFNB1: GJB6 related (GJB6)
Cystic Fibrosis (CFTR)	Ornithine transcarbamylase deficiency (OTC)
Cystinosis (CTNS)	Pendred Syndrome (SLC26A4)
D-Bifunctional Protein Deficiency (HSD17B4)	Phenylalanine Hydroxylase Deficiency (PAH)
Dihydrolipoamide Dehydrogenase Deficiency (DLD)	POLG-Related Disorders (POLG)
Dihydropyrimidine Dehydrogenase Deficiency (DPYD)	Primary Hyperoxaluria: Type 1 (AGXT)
Duchenne/Becker Muscular Dystrophy (DMD)	Primary Hyperoxaluria: Type 2 (GRHPR)
Dyskeratosis congenita (RTEL1)	Primary Congenital Glaucoma (CYP1B1 )
Ehlers-Danlos syndrome type VIIc (ADAMTS2)	PROP1-Related Combined Pituitary Hormone Deficiency (PROP1)
Ethylmalonic Encephalopathy (ETHE1)	Propionic Acidemia, PCCA Related (PCCA)
Familial Dysautonomia (ELP1)	Propionic Acidemia, PCCB Related (PCCB)
Familial Dysautonomia (IKBKAP)	Pycnodysostosis (CTSK)
Familial Hyperinsulinism (ABCC8)	Pyruvate Carboxylase Deficiency (PC)
Fanconi Anemia (FANCC)	Retinitis pigmentosa (DHDDS)
Fragile-X syndrome (FMR1)	Rhizomelic Chondrodysplasia Punctata: Type 1 (PEX7)
Fukuyama Congenital Muscular Dystrophy (FKTN)	Salla Disease (SLC17A5)
Fumarase Hydratase Deficiency (FH)	Sandhoff Disease (HEXB)
Galactosemia (GALT)	Severe Combined Immunodeficiency, Athabascan type (DCLRE1C)
Gaucher Disease (GBA)	Sjogren-Larsson Syndrome (ALDH3A2)
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)	Smith-Lemli-Opitz Syndrome (DHCR7)
Glutaric Acidemia I (GCDH)	Spinal Muscular Atrophy (SMN1)
Glycine encephalopathy (GLDC)	Systemic primary carnitine deficiency (SLC22A5)
Glycine encephalopathy (AMT)	Tay-Sachs Disease (HEXA)
Glycogen Storage Disease Type II (Pompe Disease) (GAA)	Tyrosine Hydroxylase Deficiency (TH)
Glycogen Storage Disease Type III (AGL)	Tyrosinemia: Type I (FAH)
Glycogen Storage Disease: Type Ia (G6PC)	Usher Syndrome: Type IB (MYO7A)
Glycogen Storage Disease: Type Ib (SLC37A4)	Usher Syndrome: Type IC (USH1C)
GM1 gangliosidosis (GLB1)	Usher Syndrome: Type ID (CDH23)
GRACILE syndrome (BCS1L)	Usher Syndrome: Type IF (PCDH15)
Hereditary Fructose Intolerance (ALDOB)	Usher Syndrome: Type IIA (USH2A)
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (SLC12A6)	Usher Syndrome: Type IIIA (CLRN1)
Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related (LAMA3)	Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related (LAMB3)	Wilson Disease (ATP7B)
Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related (LAMC2)	Wiskott-Aldrich syndrome (WAS)
Hermansky-Pudlak Syndrome: HPS3 Related (HPS3)	X-linked agammaglobulinemia (BTK)
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (CBS)	X-linked severe combined immunodeficiency (IL2RG)
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome (SLC25A15)	Zellweger Spectrum Disorders: PEX1 Related (PEX1)
Hypophosphatasia (ALPL)	Zellweger Syndrome (PEX2)
Inclusion Body Myopathy 2 (GNE)