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January 26, 2021
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Trait Profiles

Trait profiles are short descriptions and explanations about a wide range of genetic conditions, written in family-friendly language by genetic counselors and physicians. You may view all profiles, profiles by first letter, or search them by name.
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Genetic Syndromes
  • beckwith-wiedemann syndrome
  • best vitelliform macular dystrophy
  • beta ketothiolase deficiency
  • beta-thalassemia
  • biotinidase deficiency
  • birt-hogg-dube syndrome
  • brugada syndrome
  • 7
Metabolic Disorders
  • beta ketothiolase deficiency
  • biotinidase deficiency
  • 2
Disease Risk
  • Cancer
    • birt-hogg-dube syndrome
    • 1
  • Senses
    • best vitelliform macular dystrophy
    • 1
  • 2
Medication Response
    0
Carrier Status
  • best vitelliform macular dystrophy
  • beta ketothiolase deficiency
  • beta-thalassemia
  • biotinidase deficiency
  • 4
Newborn Screening Conditions
  • beta ketothiolase deficiency
  • 1
Copy Number Variants
    0