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DOID:0112207 - developmental and epileptic encephalopathy 71
Disease Ontology 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.
Synonyms: DEE71, early infantile epileptic encephalopathy 71, glutaminase deficiency with neonatal epileptic encephalopathy,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee