Intellectual Developmental Disorder with Autism and Dysmorphic Facies

Alternative Names

  • IDDADF
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

620021

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q25.3-q26.11

Description

Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is an autosomal recessive neurodevelopmental disorder characterized by moderate to severely impaired cognitive development associated with behavioral abnormalities, including autism spectrum disorder. Affected individuals have variable dysmorphic facial features. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
620021.1.1OmanMaleYesYes Global developmental delay; Intellectual...NM_173791.5:c.2197_2200delHomozygousAutosomal, RecessiveAl-Amri et al. 2022
620021.1.2OmanMaleYesYes Global developmental delay; Intellectual...NM_173791.5:c.2197_2200delHomozygousAutosomal, RecessiveAl-Amri et al. 2022 Sibling of 620021.1....
620021.1.3OmanFemaleYesYes Global developmental delay; Intellectual...NM_173791.5:c.2197_2200delHomozygousAutosomal, RecessiveAl-Amri et al. 2022 Sibling of 620021.1....
620021.2United Arab EmiratesMaleYes Global developmental delay; Intellectual...NM_173791.5:c.894C>GHomozygousAutosomal, RecessiveAl-Amri et al. 2022
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