developmental and epileptic encephalopathy 110 (DOID:0070395)
Alliance: disease page
Synonyms: DEE110; early infantile epileptic encephalopathy 110
Alt IDs: OMIM:620149
Definition: A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.