Writer's Guide to Government Information

Resources to inject real life detail into your fiction

MedlinePlus page on Genetics/Birth Defects

MedlinePlus page on Genetics/Birth Defects – http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html

Representative questions that can be answered with this resource:

  • Could someone live a mostly normal life and not know they had Charcot-Marie-Tooth Disease?
  • What is the tallest a human dwarf can be?
  • What are some of the effects of a man having an extra X chromosome, like in Kleinfelter Syndrome?

Description:

Links to specific conditions including:

  • Charcot-Marie-Tooth Disease
  • Dwarfism
  • Ehlers-Danlos Syndrome
  • Fragile X Syndrome
  • Friedreich’s Ataxia
  • Gaucher’s Disease
  • Hemochromatosis
  • Huntington’s Disease
  • Hydrocephalus
  • Klinefelter’s Syndrome
  • Leukodystrophies
  • Maple Syrup Urine Disease
  • Marfan Syndrome
  • Muscular Dystrophy
  • Neural Tube Defects
  • Neurofibromatosis
  • Osteogenesis Imperfecta
  • Phenylketonuria
  • Prader-Willi Syndrome
  • Rett Syndrome
  • Sickle Cell Anemia
  • Spina Bifida
  • Spinal Muscular Atrophy
  • Tay-Sachs Disease
  • Tuberous Sclerosis
  • Turner Syndrome
  • Usher Syndrome
  • Von Hippel-Lindau Disease
  • Wilson Disease
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