| 1 | glutaric aciduria type ll | 2 |
| 2 | 3-Hydroxy-3-methylglutarylCoA lyase deficiency | 0 |
| 3 | 3-HydroxyacylCoA dehydrogenase(Short-chain 3- HydroxyacylCoA dehydrogenase) Deficiency | 2 |
| 4 | 3-Methylglutaconic aciduria (MGA) | 2 |
| 5 | 3methylcrotonyl glycinuria | 1 |
| 6 | 4Hydroxybutyric aciduria | 0 |
| 7 | ?- Pyrroline-5-Carboxylase Reductase deficiency | 1 |
| 8 | Adenylosuccinate lyase deficiency(ADSL) | 1 |
| 9 | Adrenoleukodystrophy | 22 |
| 10 | Alexander Disease | 1 |
| 11 | Alfa-Mannosidosis | 1 |
| 12 | Alkaptonuria | 0 |
| 13 | Argininemia | 0 |
| 14 | Argininosuccinic aciduria | 0 |
| 15 | Aromatic L-Amino acid Decarboxylase Deficiency (AADC) | 2 |
| 16 | Ataxia Telangectasia | 1 |
| 17 | Ataxia with Oculomotor Apraxia Type 1 (AOA1) | 5 |
| 18 | Biotin-Thiamine- Responsive B6 Disease | 2 |
| 19 | Biotinidase deficiency | 22 |
| 20 | Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK) | 3 |
| 21 | Canavan | 8 |
| 22 | Carbamylphosphate synthetase deficiency | 0 |
| 23 | Carnitine -acylcarnitine translocase deficiency | 0 |
| 24 | Carnitine palmitoyl transferase l deficiency | 0 |
| 25 | Carnitine palmitoyl transferase ll deficiency,late onset | 0 |
| 26 | Carnitine palmitoyl transferase ll deficiency,lethal neonatal | 0 |
| 27 | Carnitine transporter deficiency | 1 |
| 28 | Citrullinemia | 1 |
| 29 | Cobalamin G | 1 |
| 30 | CoblC- CoblG- CoblF | 8 |
| 31 | Cockayne syndrome | 0 |
| 32 | Combined oxidation phosphorylation deficiency 6 (cow check syndrome) | 5 |
| 33 | Congenital Disorder of glycosilation | 0 |
| 34 | Creatine Deficiency | 1 |
| 35 | Cystinosis | 0 |
| 36 | Cystinuria | 0 |
| 37 | D-2-Hydroxyglutaric aciduria | 4 |
| 38 | Deficiency of the pyruvate dehydrogenase complex | 0 |
| 39 | Developmental and epileptic Encephalopathy | 1 |
| 40 | Dihydropyrimidine dehydrogenase deficiency | 1 |
| 41 | Dual specificity tyrosine phosphorylation regulate kinase 2 | 1 |
| 42 | ethylmalonic - adipic aciduria | 0 |
| 43 | Ethylmalonic encephalopathy (EE) | 2 |
| 44 | Fabry disease | 0 |
| 45 | Familial hypercholesterolemia | 0 |
| 46 | Focal cortical dysplasia II | 1 |
| 47 | Fructose-1,6-biphosphatase deficiency | 2 |
| 48 | Fucosidosis | 0 |
| 49 | Galactosemia | 0 |
| 50 | Galactosialidosis | 0 |
| 51 | Gaucher disease | 0 |
| 52 | GHMP KINASE | 1 |
| 53 | glucose transporter1 deficiency | 2 |
| 54 | Glutamine synthetase deficiency | 0 |
| 55 | Glutaric aciduria type l | 20 |
| 56 | Glutaric aciduria type ll | 1 |
| 57 | Glycogen storage diseases | 0 |
| 58 | Glycogenosis type 1- Von Gierke disease | 0 |
| 59 | Glycogenosis type 2 /Pompe | 2 |
| 60 | Glycogenosis type 3 | 0 |
| 61 | Glycogenosis type 3 / amylo-1 | 0 |
| 62 | Glycogenosis type 4 | 0 |
| 63 | Glycogenosis type 5 | 0 |
| 64 | Glycogenosis type 6 | 0 |
| 65 | Glycogenosis type 7 | 0 |
| 66 | GM1 gangliosidosis (Juvenile) | 2 |
| 67 | GM1 gangliosidosis type I (Infantile-Late) | 4 |
| 68 | GM1 gangliosidosis type II | 0 |
| 69 | GM2 activator deficiency | 2 |
| 70 | GM2 gangliosidosis(Sandhoff disease) | 1 |
| 71 | GM2 gangliosidosis(Tay-sachs disease) | 3 |
| 72 | Hartnup disease | 0 |
| 73 | hepatorenal tyrosinemia | 0 |
| 74 | HIBCH deficiency | 1 |
| 75 | holocarboxylase synthetase deficiency | 0 |
| 76 | homocisteine transferase deficiency | 1 |
| 77 | Homocystinuria | 5 |
| 78 | Hunter disease | 1 |
| 79 | Hurler disease | 0 |
| 80 | Hyper Manganesemia type 2 | 1 |
| 81 | Hyper phosphatasia | 2 |
| 82 | Hyperornithinemia | 1 |
| 83 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) | 1 |
| 84 | Hyperphenylalaninemia | 0 |
| 85 | Hypoglycemia occipital-lobe-epilepsy syndrome | 1 |
| 86 | isovaleric acidemia | 5 |
| 87 | joubert syndrome | 0 |
| 88 | KCDT7 DEFICIENCY | 1 |
| 89 | Keans-Sayre syndrome | 0 |
| 90 | Krabbe disease | 4 |
| 91 | L-2 Hydroxyglutaric aciduria | 5 |
| 92 | l-cell disease/mucolipidosis ll | 0 |
| 93 | LAFORA DISEASE | 1 |
| 94 | Leigh syndrome | 5 |
| 95 | Lesch-Nyhan disease and variants | 0 |
| 96 | Leukodystrophy | 0 |
| 97 | Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency) | 0 |
| 98 | Lysinuric protein intolerance | 0 |
| 99 | Maple syrup urine disease(MSUD) | 3 |
| 100 | Maroteaux-Lamy disease/mucopolysaccharidosis Vl | 0 |
| 101 | Medium chain acyl CoA dehydrogenase deficiency(MCAD) | 3 |
| 102 | Menkes disease | 1 |
| 103 | Metachromatic leukodystrophy(MLD) | 11 |
| 104 | methyl malonic semialdehyde dehydrogenase deficiency | 1 |
| 105 | Methylmalonic acidemia | 22 |
| 106 | methylmalonic aciduria and homocystinuria(Cobalamin C Deficiency) | 16 |
| 107 | methylmalonic aciduria and homocystinuria(Cobalamin E Deficiency) | 0 |
| 108 | methylmalonic aciduria and homocystinuria(Cobalamin G Deficiency) | 1 |
| 109 | Mevalonic aciduria | 2 |
| 110 | Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency | 0 |
| 111 | Mitochondrial cytochrome c oxidase (COX) deficiency | 2 |
| 112 | Mitochondrial DNA Deptetion syndrom 7 | 2 |
| 113 | Mitochondrial dysfunction | 19 |
| 114 | Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS) | 2 |
| 115 | Mitochondrial Myopathy LCHAD | 2 |
| 116 | Mitocondrial DNA Depletion Syndrome 2 (MTDPS2) | 3 |
| 117 | Molybdenum cofactor Deficiency | 2 |
| 118 | Morquio syndrome/mucopolysaccharidosis type lV | 1 |
| 119 | Mucolipidosis | 0 |
| 120 | Mucolipidosis lll | 0 |
| 121 | Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria | 1 |
| 122 | Multiple carboxylase deficiency /holocarboxylase synthetase deficiency | 0 |
| 123 | Multiple sulfatase deficiency | 1 |
| 124 | Myoclonic epilepsy and ragged red fiber(MERRF)disease | 0 |
| 125 | Neonatal adrenoleukodystrophy | 0 |
| 126 | Neonatal Ceroid Lipofuscinosis(NCL) | 7 |
| 127 | Neurodegeneration with Brain Iron Accumulation(NBIA) | 1 |
| 128 | Neurodegeneration.ataxia,and retinitis pigmentosa(NARP) | 0 |
| 129 | Neurodegeneration.ataxia,and retinitis pigmentosa(NARP) | 1 |
| 130 | Neurodegenerative disorder | 2 |
| 131 | Neuropathy,Russse type | 1 |
| 132 | Neurotransmitter Disorder | 2 |
| 133 | Niemann-pick A/B disease | 1 |
| 134 | Niemann-pick type C disease | 19 |
| 135 | Nonketotic hyperglycinemia | 0 |
| 136 | NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1) | 0 |
| 137 | OBESITY | 1 |
| 138 | oculocutaneous tyrosinemia | 0 |
| 139 | Ornithine transcarbamylase deficiency | 1 |
| 140 | Orotic aciduria | 2 |
| 141 | oxothiolase deficiency | 1 |
| 142 | Pearson syndrome | 0 |
| 143 | pelizaeus_Merzbacher Disease | 1 |
| 144 | Phenyl ketonuria | 0 |
| 145 | phenylketonuria | 7 |
| 146 | PKAN | 1 |
| 147 | Pontocerebellar hypoplusia | 1 |
| 148 | Propionic acidemia | 3 |
| 149 | Pyruvate carboxylase deficiency | 0 |
| 150 | Pyruvate Dehydrogenase deficiency | 1 |
| 151 | Sandhoff disease | 11 |
| 152 | Scheie and Hurler-Scheie diseases | 0 |
| 153 | Short-chain acyl CoA dehydrogenase deficiency | 0 |
| 154 | Sly disease | 0 |
| 155 | Succinate Dehydrogenase Deficiency | 4 |
| 156 | Tay-sachs disease | 3 |
| 157 | The mitochondrial DNA depletion syndromes | 0 |
| 158 | Thiamine Dysfunction | 2 |
| 159 | Thiamine Responsive Megaloblastic Anemia(TRMA Anemia) | 1 |
| 160 | Tyrosinemia | 2 |
| 161 | vanishing white mather | 2 |
| 162 | Very long chain acyl CoA dehydrogenase deficiency | 0 |
| 163 | Wolman disease | 0 |
| 164 | Zellweger | 6 |