Term Name: | developmental and epileptic encephalopathy 87 |
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Synonyms: | DEE87, early infantile 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 the CDK19 gene on chromosome 6q21. |
Ontology: | Human Disease [DOID:0112221] ( DOID:0112221 ) |