Genetic Disorder Project

Genetic Disorders Name

Achondroplasia(Dwarfism)
Achromatopsia
Acid Maltase Syndrome/Pompe’s Disorder
Acromegaly/Gigantism
Adrenoleukodystrophy/Lorenzo’s Oil
Aicardi Syndrome
Albinism
Angelman Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Amyotrophic Lateral Sclerosis(ALS)
Androgen Insensitivity Syndrome
Arrhythmogenic Right Ventricular Dysplasia
Apert Syndrome
Asperger Syndrome/Autism
Ataxia Telangiectasia
Barth Syndrome
Bloom Syndrome
Blue Rubber Bleb Nevus Syndrome
Canavan Disease

Celiac Disease
CHARGE Syndrome
CIPA (Congenital Insensitivity to Pain w/ Anhidrosis)
Coffin-Lowry Syndrome
Corpus Callosum Agenesis
Cri-Du-Chat Syndrome
Crohn’s Disease
Cystic Fibrosis
Cystinosis
Dercum’s Disease
Down Syndrome/Trisomy 21
Duchenne’s Muscular Dystrophy
Ectodermal Dysplasia
Edward’s Syndrome/Trisomy 18
Ehlers-Danlos Syndrome
Epidermolysis Bullosa
Epilepsy
Factor V Leiden Thrombophilia
Fanconi Anemia
Fibrodysplasia Ossificans Progressiva

Fragile X Syndrome
Galactosemia
Gaucher Disease
Hemochromatosis
Hemophilia
Huntington’s Disease
Hurler Syndrome
Hypophosphatasia
Ichthyosis
Klinefelter Syndrome/XXY
Krabbes Disease
Langer-Giedion Syndrome
Leukodystrophy
Long QT Syndrome
Marfan Syndrome
Moebius Syndrome
Mucopolysaccharidosis
Multiple Sclerosis
Myotonic Dystrophy
Nail-Patella Syndrome/Fong Syndrome

Nephrogenic Diabetes Insipidus
Neurofibromatosis
Niemann-Pick Disease
Osteogenesis Imperfecta
Patau Syndrome/Trisomy 13
Phenylketonuria (PKU)
Porphyrias
Prader-Willi Syndrome
Progeria Syndrome
Proteus Syndrome
Prune-belly Syndrome
Retinoblastoma (Eye Cancer)
Rett Syndrome Rubinstein-Taybi Syndrome
Sanfilippo Syndrome
Schwachmann Syndrome
Severe Combined Immuno Deficiency Syndrome (SCID)
Sickle Cell Disease
Sirenomelia
Smith-Magenis Syndrome
Stickler Syndrome

Tay-Sachs Disease
Treacher Collins Syndrome
Tuberous Sclerosis
Turner Syndrome
Urea Cycle Disorder
Usher Syndrome
Vitiligo
Von Hippel-Lindau Syndrome
Waardenberg Syndrome
Werner’s Syndrome
Williams Syndrome
Wilson’s Disease
Xeroderma Pigmentosum
Super Male/XYY Syndrome
Methemoglobinemia
Tree man