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• Dihydropyrimidinase deficiency
  *
• Cystinuria type I - A
  8
• Autoimmune lymphoproliferative syndrome
  1
• Congenital Myasthenic Syndrome
  6
  21
• Ehlers-Danlos Syndrome
  8
• Factor XII deficiency
  8
• Frontonasal dysplasia
  11
• Glycogen storage disease IV
  5
• Hypertrophic cardiomyopathy 1
  4
• Hypertrophic cardiomyopathy 3
  14
• Albinisme oculo-cutané
  8
• Hypotrichosis, short life
  9
• Osteochondrodysplasie (oreille tombante)
  12
• Alpha-Mannosidosis
  13
• Adrenal hyperplasia
  8
• Progressive Retinal Atrophy - Bengale
  15
• Progressive Retinal Atrophy rdAc
  2
  23
  24
  35
  40
  51
  25
  15
  18
  19
  20
  27
  30
  31
• Pyruvate kinase deficiency
  4
  5
  24
  40
  32
  15
  16
  37
  38
  57
• Spinal muscular atrophy
  4
• Mucopolysaccharidosis I
  8
• Mucopolysaccharidosis VI
  2
• Mucopolysaccharidosis VII 1
  8
• Mucopolysaccharidosis VII 2
  8
• Mucopolysaccharidosis VII 3
  8
• Polycystic kidney disease
  1
  6
  9
  43
  45
  14
  13
  12
  39
• Acute Intermittent Porphyria
  *
• Factor XI deficiency NEW
  4
• X-linked Myotubular Myopathy NEW
  4
• Congenital Erythropoietic Porphyria
  *
• Congenital Hypothyroidism
  *
• Gangliosidosis GM2A type II
  *
• Gangliosidosis GM1
  *
• Gangliosidosis GM2 type II - 3
  8
• Gangliosidosis GM2 type II - 4
  11
• Gangliosidosis GM2 type II - 1
  22
• Hyperlipoproteinaemia
  8
• Gangliosidosis GM2 type II - 2
  34
• Hypokalemic periodic paralysis
  11