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GENATLAS PHENOTYPE

last update : 04-02-2012

Symbol	JBTS15
Location	7q32
Name	Joubert syndrome 15
Corresponding gene	CEP41
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
Function/system disorder	eye
	neurology
	kidney and urinary tract
Type	disease

Remark(s)