Genetic Disorders Project

Achondroplasia Achromatopsia Acid Maltase Deficiency Albinism Alzheimer's Disease Angelman syndrome Bardet-Biedl Syndrome Barth Syndrome Bipolar Disorder Bloom Syndrome Color Blindness Cri-du-Chat Syndrome Cystic Fibrosis Down Syndrome Duchenne Muscular Dystrophy Fragile X Syndrome Galactosemia Hemophilia Huntington's Disease Jackson-Weiss Syndrome Klinefelter Syndrome Krabbe Disease Langer-Giedion Syndrome Lesch-Nyhan Syndrome Marfan Syndrome Muscular Dystrophy Myotonic Dystrophy Nail-Patella Syndrome Neurofibromatosis Noonan Syndrome Triple X Syndrome Osteogenesis Imperfecta Patau Syndrome Phenylketonuria Porphyria Retinoblastoma Rett Syndrome Sickle Cell Disease Tay-Sachs Disease Turner Syndrome Usher Syndrome Von Hippel-Lindau Syndrome Waardenburg Syndrome Wilson's Disease Xeroderma Pigmentosum XXXX Syndrome YY Syndrome

What to find Description of the mutation and brief summary of history Where is the mutation? – Chromosomal or DNA What are the symptoms? – Age affected What are the treatments? – Life expectancy