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GENATLAS PHENOTYPE

last update : 24-10-2017

Symbol	MSS1L
Location	9p13.3
Name	Marinesco-Sjogren syndrome 1 like
Corresponding gene	GBA2
Main clinical features	cerebellar ataxia with cataracts and mental retardation progressive muscular weakness, hypotonia, elevated serum creatine kinase, cerebellar massive cortical atrophy and hypergonadotrophic hypogonadism with severe progressive myopathy, multiple skeletal abnormalities
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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