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GENATLAS PHENOTYPE

last update : 05-06-2024

Symbol	NEDEBA
Location	17q21.2
Name	neurodevelopmental disorder with epilepsy and brain atrophy
Corresponding gene	ATP6V0A1
Main clinical features	early-onset progressive myoclonus epilepsy with ataxia myoclonus, ataxia, and impaired intellectual development; brain MRI in all patients showed cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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