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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 the ACTL6B gene on chromosome 7q22.1.

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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