Term Name: developmental and epileptic encephalopathy 87
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 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy