Leukodystrophy, Hypomyelinating, 10

Alternative Names

  • HLD10
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

616420

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q42.12

Description

Hypomyelinating leukodystrophy-10 is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616420.1United Arab EmiratesUnknown Developmental regression; Seizure; Fai...NM_013328.4:c.28C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
616420.2United Arab EmiratesUnknown Developmental regression; Generalized h...NM_013328.4:c.796C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
616420.3MoroccoMaleNo Profound global developmental delay; Pro...NM_013328.4:c.796C>THomozygousAutosomal, RecessiveMeng et al. 2017
© CAGS 2024. All rights reserved.