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GENATLAS PHENOTYPE

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
	neurology
Type	disease

Remark(s)

Genotype/Phenotype correlations

subjects with CC2D2A-related JBTS were more likely to have ventriculomegaly and seizures than subjects without CC2D2A mutations (PMID: 22241855))