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DOID:0112212 - developmental and epileptic encephalopathy 76
Disease Ontology 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.
Synonyms: DECAM, DEE76, developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination, early infantile epileptic encephalopathy 76,
Xenbase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)