Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 116
DOID:0070545
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 116

Definition
A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.
Synonyms
  • DEE116
Cross References
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