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  • achondroplasia
  • achromatic vision
  • achromatopsia
  • acid maltase deficiency
  • adrenoleukodystrophy
  • albinism
  • Alpha-1 antitrypsin deficiency
  • arrhythmogenic right ventricular dysplasia
  • ataxia telangiectasia
  • Barlow’s syndrome
  • blue rubber bleb nevus syndrome
  • celiac disease
  • Christmas disease
  • color blindness
  • Cooley’s anemia
  • cretinism
  • cri du chat syndrome
  • cystic fibrosis
  • Dercum’s disease
  • dichromatic vision
  • Down's syndrome
  • dwarfism
  • dysautonomia
  • Fanconi anemia
  • fibrodysplasia ossificans progressiva
  • fragile X syndrome
  • galactosemia
  • Gaucher disease
  • Hartnup's disease
  • hemophilia
  • Huntington’s disease/Huntington’s chorea
  • Hurler syndrome
  • hypohidrotic ectodermal dysplasia
  • ichthyosis
  • Langer-Giedion syndrome
  • leukodystrophy
  • lipid histiocytosis
  • Long QT syndrome
  • Klinefelter syndrome
  • Krabbes disease
  • Marfan syndrome
  • mental retardation
  • Milroy's disease
  • Moebius syndrome
  • mongolism
  • mucopolysaccharidosis
  • mucoviscidosis
  • muscular dystrophy
  • Nail-Patella syndrome
  • nephrogenic diabetes insipidus
  • neurofibromatosis
  • Niemann-Pick disease
  • osteogenesis imperfecta
  • pancreatic fibrosis
  • porphyria
  • Prader-Willi syndrome
  • proteus syndrome
  • retinitis pigmentosa
  • Shwachman syndrome
  • sickle-cell anemia
  • Smith-Magenis syndrome
  • Stickler syndrome
  • Tay-Sachs disease
  • thalassemia
  • Treacher Collins syndrome
  • triose phosphate isomerase deficiency
  • trisomy
  • tuberous sclerosis
  • Turner's syndrome
  • urea cycle disorder
  • Waardenburg syndrome
  • Werdnig-Hoffmann disease
  • Williams syndrome

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