| Metadata | |
|---|---|
| ID | DOID:0080418 |
| Name | developmental and epileptic encephalopathy 54 |
| Definition | A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. https://www.ncbi.nlm.nih.gov/pubmed/27652284 |
| Xrefs | |
| Synonyms |
DEE54 [EXACT] early infantile epileptic encephalopathy 54 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |