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DOID:0080449 - developmental and epileptic encephalopathy 16
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
Synonyms: DEE16, early infantile epileptic encephalopathy 16,
Xenbase Genes : tbc1d24, tbc1d24.2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee