Joubert Syndrome 26

Alternative Names

  • JBTS26
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

616784

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16p12.1

Description

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

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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....
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