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Metadata
ID	DOID:0070545
Name	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. https://pubmed.ncbi.nlm.nih.gov/38579670/
Xrefs	MIM:620806
SKOS	exactMatch MIM:620806
Synonyms	DEE116 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease is_a amino acid metabolic disorder
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance