| Metadata | |
|---|---|
| ID | DOID:0080455 |
| Name | developmental and epileptic encephalopathy 52 |
| Definition | A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19710327 |
| Xrefs | |
| Synonyms |
DEE52 [EXACT] early infantile epileptic encephalopathy 52 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |