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GENATLAS PHENOTYPE

last update : 09-01-2019

Symbol	EIEE50
Location	2p23.3
Name	epileptic encephalopathy, early infantile, 50
Corresponding gene	CAD
Main clinical features	progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia delayed psychomotor development, mild hypotonia, and a slightly wide-based gait
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)

biallelic mutations in CAD, impair pyrimidine biosynthesis and decrease glycosylation precursors (PMID: 25678555))