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Disease Ontology Browser
developmental and epileptic encephalopathy 63 (DOID:0080426)
Alliance: disease page
Synonyms: 'DEE63'; 'early infantile epileptic encephalopathy 63'
Alt IDs: OMIM:617976
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.


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
06/28/2022
MGI 6.20
The Jackson Laboratory