| Metadata | |
|---|---|
| ID | DOID:0080441 |
| Name | developmental and 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. https://www.ncbi.nlm.nih.gov/pubmed/27866705 |
| Xrefs | |
| Synonyms |
DEE49 [EXACT] early infantile epileptic encephalopathy 49 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |