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Disease Ontology Browser
developmental and epileptic encephalopathy 49 (DOID:0080441)
Alliance: disease page
Synonyms: 'DEE49'; 'early infantile epileptic encephalopathy 49'
Alt IDs: OMIM:617281
Definition: A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.


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
06/23/2022
MGI 6.20
The Jackson Laboratory