Neurodevelopmental Disorder with Early-Onset Parkinsonism and Behavioral Abnormalities

Alternative Names

  • NEDPBA
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

620747

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p23.3

Description

Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
620747.1.1EgyptMaleYesYes Intellectual disability, mildNM_001013663.2:c.365G>AHomozygousAutosomal, RecessiveReuter et al. 2017 Authors classified t...
620747.1.2EgyptMaleYesYes Intellectual disability, mildNM_001013663.2:c.365G>AHomozygousAutosomal, RecessiveReuter et al. 2017 Relative of 620747.1...
© CAGS 2024. All rights reserved.