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GENATLAS PHENOTYPE

last update : 15-03-2018

Symbol	CAAMR
Location	12q13.13
Name	cerebellar atrophy, ataxia, mental retardation
Other name(s)	cognitive impairment with or without cerebellar ataxia
Corresponding gene	SCN8A
Other symbol(s)	CIAT
Main clinical features	mental retardation, pancerebellar atrophy, and ataxia, milder cognitive behavioral deficits including attention deficit activity disorder
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)