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Metadata
ID	DOID:0112206
Name	developmental and epileptic encephalopathy 70
Definition	A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. https://pubmed.ncbi.nlm.nih.gov/30256902/
Xrefs	OMIM:618298
Synonyms	DEE70 [EXACT] early infantile epileptic encephalopathy 70 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease