Term Name: | developmental and epileptic encephalopathy 71 |
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Synonyms: | DEE71, early infantile epileptic encephalopathy 71, glutaminase deficiency with neonatal epileptic encephalopathy |
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. |
Ontology: | Human Disease [DOID:0112207] ( DOID:0112207 ) |