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GENATLAS PHENOTYPE

last update : 24-08-2017

Symbol	JBTS28
Location	17q22
Name	Joubert syndrome 28
Corresponding gene	MKS1
Main clinical features	developmental delay, oculomotor abnormalities such as nystagmus or oculomotor apraxia, hypotonia and/or ataxia, and the molar tooth sign on brain imaging episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia
Genetic determination	autosomal recessive
Function/system disorder	neurology
	eye
Type	disease

Remark(s)

hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features (PMID: 27570071))