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GENATLAS PHENOTYPE

last update : 01-09-2020

Symbol	EPM9
Location	19p13.3
Name	epilepsy, progressive myoclonic, 9
Corresponding gene	LMNB2
Main clinical features	progressive myoclonic epilepsy with ataxia beginning in the first decade, with delayed psychomotor development,and delayed speech also scoliosis, muscle atrophy, and diffuse loss of subcutaneous fat
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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