developmental and epileptic encephalopathy 87 (DOID:0112221)
Alliance: disease page
Synonyms: DEE87; early infantile epileptic encephalopathy 87
Alt IDs: OMIM:618916
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.