Neurodevelopmental Disorder with Involuntary Movements

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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

617493

Mode of Inheritance

Autosomal dominant

Gene Map Locus

16q13

Description

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617768.1United Arab EmiratesFemaleYes Motor delay; Global developmental delay;...NM_020988.3:c.680C>THeterozygousAutosomal, DominantMahfouz et al. 2020
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