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Home : Conditions and Diseases : Genetic Disorders
  Aarskog Syndrome (4)
  Aase Syndrome (3)
  Ablepharon-Macrostomia Syndrome (2)
  Alagille Syndrome (5)
  Alkaptonuria (2)
  Alpha-1 Antitrypsin Deficiency (6)
  Batten (6)
  Beckwith-Wiedemann Syndrome (6)
  Coffin Lowry Syndrome (3)
  Costello Syndrome (2)
  Cowden Syndrome (2)
  Craniofrontonasal Dysplasia (2)
  Crigler-Najjar Syndrome (2)
  Cystic Fibrosis (78)
  DiGeorge Syndrome (3)
  Down Syndrome (64)
  Dubowitz Syndrome (3)
  Ectodermal Dysplasia (5)
  Familial Hypercholesterolemia (0)
  Fatty Oxidation (3)
  Floating-Harbor Syndrome (2)
  Fragile X Syndrome (11)
  Glutaricaciduria (3)
  Hailey-Hailey Disease (1)
  Hemihypertrophy (2)
  Hemochromatosis (12)
  Hereditary Angioedema (3)
  Hereditary Spastic Paraplegia (6)
  Incontinentia Pigmenti (5)
  Joubert Syndrome (4)
  Klinefelter Syndrome (10)
  Laurence-Moon Syndrome (3)
  Lesch-Nyhan Syndrome (3)
  Lowe Syndrome (3)
  Machado-Joseph (3)
  Mannosidosis (2)
  McArdle's (0)
  Meckel-Gruber Syndrome (2)
  Mobius Syndrome (2)
  Nail Patella Syndrome (2)
  Noonan Syndrome (7)
  Opitz Syndrome (6)
  Organizations (5)
  Pallister Killian Mosaic Syndrome (2)
  Pallister-Hall Syndrome (4)
  Personal Pages (7)
  Popliteal Pterygium Syndrome (2)
  Prader-Willi Syndrome (8)
  Propionic Acidemia (4)
  Proteus Syndrome (3)
  Prune Belly Syndrome (3)
  Pseudoxanthoma Elasticum (4)
  Robinow Syndrome (4)
  Russell Silver Syndrome (2)
  Sanfilippo Syndrome (5)
  Schizencephaly (3)
  Shwachman Syndrome (7)
  Smith Lemli Opitz Syndrome (2)
  Smith-Magenis Syndrome (4)
  Soto's Syndrome (3)
  Sturge-Weber Syndrome (4)
  Thrombocytopenia Absent Radius Syndrome (3)
  Turner Syndrome (10)
  Urea Cycle (2)
  Usher Syndrome (1)
  Velo-Cardio-Facial Syndrome (3)
  Von Hippel-Lindau (3)
  Waardenburg Syndrome (2)
  Weaver Syndrome (2)
  Williams Syndrome (8)
  Xeroderma Pigmentosum (6)
  Zellweger Syndrome (5)
  • Gene Clinics
    Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
  • Genetic and Rare Conditions Site
    Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
  • Genetic Disorders: The Links to Diet
    Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
  • The UDGD Spot
    Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.
  • XLH Network
    Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
  • Your Genes, Your Health
    The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.

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