TAF6

Clinical Characteristics

The clinical features of Alazami-Yuan syndrome include:

  • Intellectual disability
  • Delayed psychomotor development
  • Poor speech
  • Microcephaly
  • Neonatal hypotonia
  • Hyperactivity
  • Variable dysmorphic features, including:
    • Low frontal hairline
    • Synophrys
    • Prominent nose and nasal bridge
    • Hypoplastic nasal wings
    • Long columella
    • Long philtrum
    • Thin upper lip
    • Microstomia
    • High-arched palate
    • Crowded teeth
    • Long eyelashes
    • Thick eyebrows
    • Arched eyebrows

Other clinical features may include:

  • Hyperactivity
  • Hirsutism
  • Cryptorchidism