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Metadata
ID DOID:0112221
Name developmental and epileptic encephalopathy 87
Definition A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in CDK19 on chromosome 6q21.
https://pubmed.ncbi.nlm.nih.gov/32330417/
Xrefs

OMIM:618916

Synonyms

DEE87 [EXACT]

early infantile epileptic encephalopathy 87 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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