1. Achromatopsia 3

  2. Alkaptonuria

  3. Alpha-Mannosidosis

  4. Andermann/ Charlevoix syndrome 

  5. AR Polycystic kidney disease

  6. Bardet-Biedl syndrome 1

  7. Biotidinase deficiency

  8. Bloom syndrome

  9. Canavan disease

  10. Carnitine palmitoyltransferase II deficiency: AR; manifeste heteroz

  11. CLN3-related neuronal Ceroid lipofuscinosis 

  12. CLN5-related neuronal Ceroid lipofuscinosis 

  13. CLN8-related neuronal Ceroid lipofuscinosis , nothern epilepsy

  14. Congenital disorder of glycosylation type 1a (PMM2)

  15. Cystic Fibrosis (mucoviscidose, taaislijmeziekte)

  16. Cystinosis 

  17. Familial Dysautonomia

  18. Familial mediterranean fever 

  19. Fanconi Anemia, type C

  20. Foetal akinesia

  21. Fragile X syndrome: XL

  22. G-6-PD

  23. Galactosemia

  24. Gaucher disease

  25. GJB2-related nonsyndromic hearing loss/deafness

  26. Glycogen storage disease type 1A

  27. Hyperinsulinemic hypoglycemia ABBC8: AR/AD

  28. Inclusion body myopathy 2 (Nonaka myopathy)

  29. Joubert syndrome 2

  30. Krabbe disease

  31. LCHAD deficiency

  32. Leukoencefalopathy with vanishing white matter

  33. Lipoamide dehydrogenase deficiency

  34. Maple Syrup Urine Disease (MSUD)

  35. Meckel syndrome 2

  36. Metachromatic Leukodystrophy (MLD)

  37. Mitochondrial DNA depletion syndrome 4A, Alpers type

  38. Mitochondrial DNA depletion syndrome 4B, MNGIE type

  39. Mitochondrial recessive ataxia syndrome

  40. Mitochondrial trifunctional protein deficiency

  41. Mucolipidosis type IV

  42. Mucopolysaccharidosis I, Hurler syndrome

  43. Mucopolysaccharidosis III, Sanfilippo syndrome

  44. Mucopolysaccharidosis IV, Morquio syndrome

  45. Mucopolysaccharidosis VI, Maroteaux-Lamy syndrome

  46. Mucopolysaccharidosis VII, Sly syndrome

  47. Muscle-eye-brain disease, Walker Warburg syndrome

  48. nefrotic syndrome type 2

  49. Nemaline myopathy

  50. Nephrotic syndrome type 1, Fins type

  51. Neuronal Ceroid Lipfuscinosis type 8, Progressive epilepsy and mental retardation

  52. Neuronal Ceroid Lipofuscinosis type 1

  53. Neuronal Ceroid Lipofuscinosis type 2

  54. Neuronal Ceroid Lipofuscinosis type 3, Batten-Spielmeyer_Vogt disease

  55. Neuronal Ceroid Lipofuscinosis type 5, Fins variant

  56. Nieman-Pick disease

  57. Nijmegen Breackage syndrome

  58. Osteogenesis imperfecta type IIB/III

  59. Pendred syndrome

  60. Phenylketonuria

  61. Pompe disease (congenital and juvenile)

  62. Pontocerebellar Hypoplasia type 1

  63. Pontocerebellar Hypoplasia type 2

  64. Pontocerebellar Hypoplasia type 6

  65. Rhizomelic ChondroDysplasia Punctata type 1

  66. Sickle cell disease

  67. Smith-Lemli-Opitz syndrome

  68. Spinal Muscular Atrophy

  69. Sulfate transporter-related osteochondrodysplasia (MED)

  70. Tay-Sachs disease (GM2 Gangliosidosis)

  71. Thalassemias, alpha- (HBA1)

  72. Thalassemias, alpha- (HBA2)

  73. Thalassemias, alpha- (HBB)

  74. TPPA-related neuronal Ceroid lipofuscinosis, 

  75. Usher syndrome Type 1F

  76. Usher syndrome type 3

  77. VLCAD deficiency

  78. Wilson disease

  79. Zellweger syndrome