Clark-Baraitser Syndrome

Alternative Names

  • CLABARS
  • Baraitser Syndrome
  • Mental Retardation, Autosomal Dominant 49
  • MRD49
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WHO-ICD-10 version:2010

Mental and behavioural disorders

OMIM Number

617752

Gene Map Locus

2q36.3

Description

Clark-Baraitser Syndrome (CLABARS) is characterized by intellectual disabilities/developmental disabilities, delayed speech, autistic features/behavioural anomalies, seizure, and dysmorphic facial features. Some patients are also observed with microcephaly and obesity. CLABARS is associated with mutation in TRIP12 gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617752.1United Arab EmiratesMaleYes Intellectual disability; Delayed speech ...NM_004238.1:c.2979dupHeterozygousAutosomal, DominantZhang et al. 2017 Variant is de novo
617752.2Saudi ArabiaMale Intellectual disability; Delayed speech ...NM_004238.1:c.3446_3447delHeterozygousAutosomal, DominantZhang et al. 2017 Variant is de novo
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