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Disease Ontology Browser
developmental and epileptic encephalopathy 71 (DOID:0112207)
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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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory