Cerebral Palsy, Spastic Quadriplegic 3

Alternative Names

  • CPSQ3

Associated Genes

Adducin 3
Back to search Result
WHO-ICD-10 version:2010

Diseases of the nervous system

Cerebral palsy and other paralytic syndromes

OMIM Number

617008

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q25.1-q25.2

Description

Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. [From Orphanet]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617008.1United Arab EmiratesUnknown Neurodevelopmental delay; Hypotonia; S...NM_016824.5:c.1100G>AHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
© CAGS 2024. All rights reserved.