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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 CACNA1E 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

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