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References OMIM Gene GeneReviews HGMD HGNC
last update : 5/06/2006
Symbol AUTS4
Location 15q11-q13
Name autism spectrum disorder, 4
Other name(s) autism, pervasive development disorder
Corresponding gene GABRB3
Other symbol(s) ASD
Main clinical features
  • complex neurodevelopmental disorder characterized by impairment in social interaction, restricted and stereotyped behaviors, and deficits in language and communication
  • Genetic determination
    Related entries INVDUP15, DUP15QP, RTT
    Function/system disorder psychiatric disorder
    mental retardation
    Type susceptibility factor
    Gene product
    Name receptor subunit for the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)
    Remark(s) epigenetic dysregulation of GABRB3 is observed in autism-spectrum disorders