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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-06-2020
Symbol ALYUS
Location 7q22.1
Name Alazami-Yuan syndrome
Corresponding gene TAF6
Main clinical features
  • intellectual disability and dysmorphic features, hypotonia and poor feeding soon after birth, and later delayed psychomotor development with poor speech acquisition
  • dysmorphic features included strabismus, low hairline, synophrys, curved eyebrows, prominent nasal bridge, short columella, hypoplastic nasal wings, and high-arched palate with crowded teeth, short stature
  • brain imaging was normal
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease