Metadata | |
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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 |