Human Phenotypes. Achondroplasia (dwarfism) Acid Maltase Deficiency Adrenoleukodystrophy (Lorenzo's Oil) Albinism Alpha thalassemia Alpha-1 Antitrypsin Deficiency Amyotophic Lateral Sclerosis Androgen Insensitivity Syndrome Apert Syndrome Ataxia Telangiectasia Beta thalassemia Coffin-Lowry Syndrome Colorblindness Cystic Fibrosis Duchenne Muscular Dystrophy Fanconi Anemia Galactosemia Gaucher Disease Hemochromatosis Hemophilia Herditary Deafness Huntington's Disease Krabbes Disease Marfan Syndrome (Alton Giant) Neurofibromatosis Niemann-Pick Disease Osteogenesis Imperfecta Phenylketonuria (PKU) Porphyria Progeria (premature aging) Retinoblastma Rett Syndrome Tay Sachs Disease Urea Cycle Disorder Wilms Tumor Xeroderma pigmentosum