Autism, Susceptibility to, X-Linked 3

Alternative Names

  • AUTSX3
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WHO-ICD-10 version:2010

Mental and behavioural disorders

Disorders of psychological development

OMIM Number

300496

Mode of Inheritance

X-linked

Gene Map Locus

Xq28

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior. 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent. Genetic studies in autism often include family members with these less stringent diagnoses. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
300496.1United Arab EmiratesMaleYesYes Global developmental delay; Intellectual... NM_001110792.1:c.932C>THemizygousX-linkedSaleh et al. 2021 Similarly affected b...
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