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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 PHACTR1 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

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