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Disease Ontology Browser
developmental and epileptic encephalopathy 75 (DOID:0112211)
Alliance: disease page
Synonyms: 'DEE75'; 'early infantile epileptic encephalopathy 75'
Alt IDs: OMIM:618437
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in PARS2 on chromosome 1p32.3.


Contributing Projects:
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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last database update
06/14/2022
MGI 6.19
The Jackson Laboratory