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Metadata
ID	DOID:0080471
Name	developmental and epileptic encephalopathy 92
Definition	A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. https://www.ncbi.nlm.nih.gov/pubmed/25124326, https://www.ncbi.nlm.nih.gov/pubmed/29100083
Xrefs	OMIM:617829
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease