developmental and epileptic encephalopathy 71 (DOID:0112207)
Alliance: disease page
Synonyms: DEE71; early infantile epileptic encephalopathy 71; glutaminase deficiency with neonatal epileptic encephalopathy
Alt IDs: OMIM:618328
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.