Intellectual Developmental Disorder with Autism and Macrocephaly

Alternative Names

  • IDDAM
  • Autsim, Susceptibility to, 18
  • AUTS18
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WHO-ICD-10 version:2010

Mental and behavioural disorders

Disorders of psychological development

OMIM Number

615032

Mode of Inheritance

Autosomal dominant

Gene Map Locus

14q11.2

Description

Intellectual developmental disorder with autism and macrocephaly (IDDAM) is characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Other common features include tall stature, gastrointestinal symptoms, distinct facial features, sleep problems, and attention problems. [From OMIM]

Molecular Genetics

The condition follows an autosomal dominant pattern of inheritance and is caused by mutations in the CHD8 gene. This gene encodes a helicase enzyme that functions as a chromatin remodeling factor and transcription regulator. It thus plays a key role in the regulation of the Wnt signalling pathway, the fibroblast apoptotic process, and in-utero embryonic development. More than 30 CHD8 gene mutations have been associated with autism spectrum disorder, including indels, splice site variants and nonsense mutations. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615032.1Saudi ArabiaMaleYes Autism; Intellectual disabilityNM_001170629.2:c.4984C>THomozygousAutosomal, DominantMonies et al. 2017; Monies et al. 2019 de novo mutation
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