Joubert Syndrome 26

Alternative Names

  • JBTS26
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Joubert syndrome-26 (JBTS26) is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616784.1.1Saudi ArabiaFemaleYesYes Tachypnea; Neonatal hyperbilirubinemia; ...NM_015202.5:c.2674C>THomozygousAutosomal, RecessiveSanders et al. 2015
616784.1.2Saudi ArabiaFemaleYesYes Recurrent upper respiratory tract infect...NM_015202.5:c.2674C>THomozygousAutosomal, RecessiveSanders et al. 2015 Sibling of 616784.1....
616784.1.3Saudi ArabiaMaleYesYes Tachypnea; Global developmental delay; E...NM_015202.5:c.2674C>THomozygousAutosomal, RecessiveSanders et al. 2015 Sibling of 616784.1....
616784.2Saudi ArabiaMaleNoYes Global developmental delay; Molar tooth ...NM_015202.5:c.1672C>THomozygousAutosomal, RecessiveMaddirevula et al. 2019
© CAGS 2023. All rights reserved.