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Metadata
ID	DOID:0112205
Name	developmental and epileptic encephalopathy 69
Definition	A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/30343943/
Xrefs	OMIM:618285
Synonyms	DEE69 [EXACT] early infantile epileptic encephalopathy 69 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease