| Metadata | |
|---|---|
| ID | DOID:0051083 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051083 Copy |
| Name | developmental and epileptic encephalopathy 111 |
| 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. https://pubmed.ncbi.nlm.nih.gov/36067010/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |