| Metadata | |
|---|---|
| ID | DOID:0112207 |
| Name | developmental and epileptic encephalopathy 71 |
| Definition | A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. https://pubmed.ncbi.nlm.nih.gov/30575854/ |
| Xrefs | |
| Synonyms |
DEE71 [EXACT] early infantile epileptic encephalopathy 71 [EXACT] glutaminase deficiency with neonatal epileptic encephalopathy [EXACT] |
| Parent Relationships |