Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis

Alternative Names

  • IDDDFP
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WHO-ICD-10 version:2010

Diseases of the nervous system

OMIM Number

617333

Mode of Inheritance

Autosomal dominant

Gene Map Locus

3p25.3

Description

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617333.1Saudi ArabiaFemaleNoNo Macrocephaly; Abnormal facial shapeNM_001003694.2:c.2600C>THeterozygousAutosomal, DominantMonies et al. 2017 Apart from the heter...
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