Term Name: developmental and epileptic encephalopathy 71
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 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy