Joubert Syndrome 18

Alternative Names

  • JBTS18
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

614815

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q24.1

Description

Joubert syndrome 18 (JBTS18) is characterised by variable clinical features including intellectual disability, abnormal eye moverments, oral anomalies, vermis agenesis, and molar tooth sign on MRI. JBTS18 is associated with mutations in TCTN3  gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
608629.4.1United Arab EmiratesFemaleNo Ataxia; Intellectual disability; Molar t...NM_015631.6:c.1437G>CHeterozygousAutosomal, RecessiveBen-Salem et al. 2014 Patient from 'JS_B' ...
608629.4.2SyriaMaleNo Ataxia; Intellectual disability; Molar t...NM_015631.6:c.1437G>CHeterozygousAutosomal, RecessiveBen-Salem et al. 2014 Patient from 'JS_B' ...
© CAGS 2024. All rights reserved.