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Achondroplasia (19)

Achromatopsia (20)

Acid Maltase Deficiency (20)

Adrenoleukodystrophy (20)

Aicardi Syndrome (20)

Alpha-1 Antitrypsin Deficiency (20)

Androgen Insensitivity Syndrome (20)

Apert Syndrome (18)

Arrhythmogenic Right Ventricular Dysplasia (17)

Ataxia Telangiectasia (19)

Barth Syndrome (18)

Blue Rubber Bleb Nevus Syndrome (20)

Canavan Disease (19)

Cri Du Chat Syndrome (19)

Cystic Fibrosis (19)

Dercum's Disease (0)

Ectodermal Dysplasia (19)

Fanconi Anemia (19)

Fibrodysplasia Ossificans Progressiva (18)

Fragile X Syndrome (20)

Galactosemia (20)

Gaucher Disease (0)

Hemochromatosis (20)

Hemophilia (19)

Huntington's Disease (0)

Hurler Syndrome (18)

Hypophosphatasia (19)

Klinefelter Syndrome (0)

Krabbes Disease (1)

Langer-Giedion Syndrome (19)

Leukodystrophy (20)

Long QT Syndrome (19)

Marfan Syndrome (19)

Moebius Syndrome (17)

Mucopolysaccharidosis (19)

Nail Patella Syndrome (19)

Nephrogenic Diabetes Insipidus (19)

Neurofibromatosis (20)

Niemann-Pick Disease (20)

Osteogenesis Imperfecta (19)

Porphyria (18)

Prader-Willi Syndrome (20)

Progeria (19)

Proteus Syndrome (20)

Retinoblastoma (20)

Rett Syndrome (19)

Rubinstein-Taybi Syndrome (20)

Sanfilippo Syndrome (16)

Shwachman Syndrome (19)

Sickle Cell Disease (20)

Smith-Magenis Syndrome (20)

Stickler Syndrome (17)

Tay-Sachs (19)

Thrombocytopenia Absent Radius Syndrome (20)

Treacher Collins Syndrome (16)

Trisomy (20)

Tuberous Sclerosis (20)

Turner's Syndrome (0)

Urea Cycle Disorder (19)

Von Hippel-Lindau Disease (20)

Waardenburg Syndrome (20)

Williams Syndrome (20)

Wilson's Disease (0)