Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 08-02-2014
Symbol JBTS9
Location 4p15
Name Joubert syndrome 9
Corresponding gene CC2D2A
Main clinical features
  • characterized by agenesis or dysgenesis of the cerebellar vermis, hypotonia, ataxia, mental retardation and either abnormal eye movements or episodic hyperpnea or both, axial magnetic resonance imaging of the upper brain stem shows a characteristic "molar tooth" appearance due to an abnormally deep posterior interpeduncular fossa, prominent or thickened superior cerebellar pedoncules, and hypoplasia and clefting of primarily the superior vermis
  • Genetic determination autosomal recessive
    Related entries . including cases with the distinctive COACH (OMIM 216360) subtype that likely represents a transitional phenotype between Joubert and Meckel syndrome
    Function/system disorder eye
    kidney and urinary tract
    Type disease
    Genotype/Phenotype correlations subjects with CC2D2A-related JBTS were more likely to have ventriculomegaly and seizures than subjects without CC2D2A mutations (PMID: 22241855))