Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 07-11-2013
Symbol AUTSX7
Location Xq13.2
Name autism spectrum disorder, X-linked 7
Corresponding gene KIAA2022
Main clinical features
  • moderate-to-severe mental retardation with autistic features, strabismus in all patients, with no specific dysmorphic features other than a round face in infancy and no structural brain abnormalities on magnetic resonance imaging (MRI)
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type MCA/MR
    Remark(s)