| Term Name: | developmental and epileptic encephalopathy 111 |
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| Synonyms: | |
| Definition: | A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12. |
| Ontology: | Human Disease [DOID:0051083] ( DOID:0051083 ) |