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Metadata
ID	DOID:0080447
Name	developmental and epileptic encephalopathy 43
Definition	A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. https://pubmed.ncbi.nlm.nih.gov/27476654/, https://www.ncbi.nlm.nih.gov/pubmed/23934111
Xrefs	OMIM:617113
Synonyms	DEE43 [EXACT] early infantile epileptic encephalopathy 43 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease