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GENATLAS PHENOTYPE

last update : 09-12-2015

Symbol	JBTS25
Location	1p36.31
Name	Joubert syndrome 25
Corresponding gene	CEP104
Main clinical features	distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia malformation involving the brainstem and cerebellum and consisting of cerebellar vermis hypoplasia or aplasia, horizontal elongated cerebellar peduncles, and a deep interpeduncular fossa; together, these take on the pathognomonic appearance of a molar tooth
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
Type	disease

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