developmental and epileptic encephalopathy 49 (DOID:0080441)
Alliance: disease page
Synonyms: DEE49; early infantile epileptic encephalopathy 49
Alt IDs: OMIM:617281
Definition: A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.