developmental and epileptic encephalopathy 16 (DOID:0080449)
Alliance: disease page
Synonyms: DEE16; early infantile epileptic encephalopathy 16
Alt IDs: OMIM:615338, ORDO:352596
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.