Term Name: | developmental and epileptic encephalopathy 49 |
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Synonyms: | DEE49, early infantile epileptic encephalopathy 49 |
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. |
Ontology: | Human Disease [DOID:0080441] ( DOID:0080441 ) |