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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease
  • biallelic mutations in CAD, impair pyrimidine biosynthesis and decrease glycosylation precursors (PMID: 25678555))