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Disease Ontology Browser
developmental and epileptic encephalopathy 76 (DOID:0112212)
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Synonyms: 'DECAM'; 'DEE76'; 'developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination'; 'early infantile epileptic encephalopathy 76'
Alt IDs: OMIM:618468
Definition: A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1.


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