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GENATLAS PHENOTYPE

last update : 26/12/06

Symbol	JBTS6
Location	8q22.1
Name	Joubert syndrome 6
Corresponding gene	TMEM67
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
Prevalence	10p100 of patients with Joubert syndrome
Function/system disorder	neurology
	kidney and urinary tract
Type	disease

Remark(s)