| Metadata | |
|---|---|
| ID | DOID:0070387 |
| Name | developmental and epileptic encephalopathy 101 |
| Definition | A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/34611970/ |
| Xrefs | |
| Synonyms |
DEE101 [EXACT] early infantile epileptic encephalopathy 101 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |