Table Name of diseases (i) (ii) 1. Congenital urea cycle disorders 2. Citrullinemia 3. Nitroacetylglutamate synthetase deficiency 4. Ornithine transcarbamylase deficiency 5. Hyperornithinemia-hyperammon 270.6 emia-homocitrullinuria syndrome 6. Amino acid metabolic disorders (Aminoacidopathies) 7. Homocystinuria 8. Hypermethioninemia 9. Nonketotic hyperglycinemia 10. Phenylketouria 11. Tetrahydrobiopterin deficiency 12. Hereditary tyrosinemia 13. Maple syrup urine disease 14. Organic acidemias 15. Isovaleric academia 16. Glutaric aciduria type I, II 17. Propionic academia 18. Methylmalonic acidemia 19. 3-Hydroxy-3-methyl-glutaric acidemia 20. PAH type PKU combine with sucrase-isomaltase deficiency 21. Hyperlysinemia 22. Histidinemia 23. 3-Methylcrotonyl-CoA carboxylase deficiency 24. Multiple carboxylase deficiency 25. Hyperprolinemia 26. Aromatic L-amino acid decarboxylase deficiency 27. Tyrosine hydroxylase deficiency 28. Cobalamin C defect (Methylmalonic aciduria and Homocystinuria, cb1C type) 29. Gaucher’s disease 30. GM1/GM2 gangliosidosis 31. Fabry disease 32. Niemann-Pick disease 33. Metachromatic leukodystrophy 34. Globoid cell leukodystrophy (Krabbe’s disease) 35. Infantile form lysosomal acid lipase deficiency (Wolman disease) 36. Galactosemia 37. Glycogen storage disease Name of diseases (i) (ii) 38. Glut 1 (Glucose transporter type 1) deficiency syndrome 39. Fatty acid oxidation defect 40. Carnitine deficiency syndrome, Primary 41. Medium-chain acyl-coenzyme A dehydrogenase deficiency 42. Short-chain acyl-CoA dehydrogenase deficiency 43. Mitochondrial defect 44. Kearns-Sayre syndrome 45. Leigh disease 46. MELAS 47. Mitochondrial neurogastrointestinal encephalopathy syndrome 48. Pyruvate dehydrogenase deficiency 49. Barth syndrome 50. Cystinosis 51. Mucopolysaccharidoses 52. Fucosidosis 53. Sialidosis 54. Mucolipidosis 55. Neuronal ceroid lipofuscinosis 56. Multiple sulfatase deficiency 57. Homozygous familial hypercholesterolemia 58. Familial hyperchylomicronemia 59. Sitosterolemia 60. Wilson’s disease 61. Menkes syndrome 62. Molybdenum cofactor deficiency 63. Zellweger syndrome 64. Adrenoleukodystrophy 65. Rhizomelic chondrodysplasia punctata 66. Porphyria 67. Lesch-Nyhan syndrome 68. Sulfite oxidase deficiency 69. Carbohydrate-deficiency glycoprotein syndrome 70. Trimethylaminuria 71. Congenital generalized lipodystrophy 72. Cerebrotendinous xanthomatosis 73. Hypophosphatasia 74. Beta-ketothiolase deficiency 75. Biotinidase deficiency 76. Multiple sclerosis 77. Amyotrophic lateral sclerosis 78. Ataxia telangiectasia Name of diseases (i) (ii) 79. Huntington disease (Huntington’s chorea) 80. Rett syndrome 81. Spinal muscular atrophy 82. Spinocerebellar ataxia 83. Tuberous sclerosis 84. Congenital insensitivity to pain with anhidrosis 85. Neurofibromatosis type II 86. Alexander disease 87. Stiffperson syndrome 88. Hereditary spastic paraplegia 89. Joubert syndrome 90. Pelizaeus-Merzbacher disease 91. Charcot Marie tooth disease 92. Kennedy disease 93. Familial amyloidotic polyneuropathy 94. Moebius syndrome 95. Mcleod syndrome 96. Aicardi-Goutieres syndrome 97. Proteus Syndrome 98. Methyl CpG binding protein 2 duplication syndrome 99. Cerebro-costo-mandibular syndrome 100. Idiopathic infantile arterial calcification 101. Cystic fibrosis 102. Primary pulmonary hypertension 103. Holt-Oram syndrome 104. Andersen syndrome 105. Hereditary hemorrhagic telangiectasia 106. Asphyxiating thoracic dystrophy 107. Congenital central hypoventilation syndrome 108. Progressive intrahepatic cholestasis 109. Inborn errors of bile acid synthesis 110. α1- Antitrypsin deficiency 111. Congenital interstitial cell of cajal hyperplasia with neuronal intestinal dysplasia 112. Alagille syndrome 113. Lowe syndrome 114. Bartter’s syndrome 115. Autosomal recessive polycystic kidney disease 116. Hereditary epidermolysis bullosa 117. Lchthyosis, lamellar recessive 118. Collodion baby Name of diseases (i) (ii) 119. Harlequin ichthyosis 120. Bullous congenital ichthyosiform erythoderma (epidermolytic hyperkeratosis) 121. Ectodermal dysplasias 122. Meleda disease 123. Darier’s disease 124. Dyskeratosis congenita 125. Diffuse non-epidermolytic palmoplantar keratoderma type unna-thost 126. Incontinentia pigmenti 127. Netherton syndrome 128. Duchenne muscular dystrophy 129. Nemaline rod myopathy 130. Schwartz Jampel syndrome 131. Myotonic dystrophy 132. Facioscapulohumeral muscular dystrophy 133. Myotubular myopathy 134. Becker muscular dystrophy 135. Freeman-Sheldon syndrome 136. Limb-girdle muscular dystrophy 137. Congenital muscular dystrophy 138. Central core disease 139. Multiminicore disease 140. Achondroplasia 141. Osteogenesis imperfecta 142. Primary Paget disease 143. Cleidocraninal dysplasia 144. Fibrodysplasia ossificans progressiva 145. Split-hand/split-foot malformation 146. Osteopetrosis 147. Pseudoachondroplastic dysplasia 148. Multiple epiphyseal dysplasia 149. Ehlers Danlos syndrome IV 150. Thalassemia major 151. Thrombasthenia 152. Homozygous protein C deficiency 153. Paroxysmal nocturnal hemoglobinuria 154. Atypical hemolytic uremic syndrome 155. Chronic primary granulomatous disease 156. Congenital hyper IgE syndrome 157. Bruton’s agammaglobulinemia Name of diseases (i) (ii) 158. Wiskott-Aldrich syndrome 159. Severe combined immunodeficiency 160. Complement component 8 deficiency 161. IPEX syndrome 162. Hyper-IgM syndrome 163. Interferon γ receptor 1 deficiency 164. Kenny-Caffey syndrome 165. Pseudohypoparathyroidism 166. X-linked hypophosphatemic rickets 167. Laron syndrome (Laron dwarfism) 168. Bardet-Biedl syndrome 169. Alsrtom syndrome 170. Persistent hyperinsulinemic hypoglycemia of infancy 171. Wolfram syndrome, DIDMOAD 172. McCune Albright syndrome 173. Campomelic dysplasia with autosomal sex reversal 174. ACTH resistance 175. 1α-hydroxylase deficiency 176. Congenital adrenal hypoplasia 177. Kallmann syndrome 178. Permanent neonatal diabetes mellitus 179. Aarskog-Scott syndrome 180. Waardenburg syndrome 181. Apert syndrome 182. Smith-Lemli-Opitz syndrome 183. Larsen syndrome 184. Beckwith Wiedemann syndrome 185. Crouzon syndrome 186. Fraser syndrome 187. Multiple pterygium syndrome 188. Cornelia de Lange syndrome 189. Hallerman-Streiff syndrome 190. Kabuki syndrome 191. Oto-palato-digital syndrome 192. Conradi-Hunermann syndrome 193. Treacher Collins syndrome 194. Robinow syndrome 195. Pfeiffer syndrome 196. Pantothenate kinase associated neurodegeneration 197. Nail-Patella syndrome 198. Cardiofaciocutaneous syndrome Name of diseases (i) (ii) 199. Peters-Plus syndrome 200. Nager syndrome 201. CHARGE syndrome 202. White-Sutton syndrome 203. Angelman syndrome 204. DiGeorge’s syndrome 205. Prader-Willi syndrome 206. Wilms’ tumor-aniridia-genitourinary anomalies-mental retardation 207. Miller Dieker syndrome 208. Rubinstein-Taybi syndrome 209. Williams syndrome 210. Von Hippel–Lindau disease 211. Branchio-oto-renal syndrome 212. Cockayne syndrome 213. Hutchinson Gilford progeria syndrome 214. Tricho-hepato-enteric syndrome 215. Stargardt’s disease 216. Occult macular dystrophy