TAF6

Clinical Characteristics

The clinical features of Alazami-Yuan syndrome include:

  • Intellectual disability
  • Delayed development
  • Poor speech
  • Abnormally small head
  • Reduced muscle tone
  • Hyperactivity
  • Variable dysmorphic features, including:
    • Low frontal hairline
    • Unibrow
    • Prominent nose and nasal bridge
    • Underdeveloped nasal wings
    • Long columella (columella is the bridge of tissue that separates the nostrils)
    • Long philtrum (the vertical indentation in the middle of the upper lip)
    • Thin upper lip
    • Small mouth
    • High-arched palate
    • Crowded teeth
    • Long eyelashes
    • Thick eyebrows
    • Arched eyebrows

Other clinical features may include:

  • Hyperactivity
  • Hirsutism (excessive body hair)
  • Undescended testes