Developmental and epileptic encephalopathy, 16
Developmental and epileptic encephalopathy, 16
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.
Also known as DEE16, developmental and epileptic encephalopathy 16, EIEE16, epileptic encephalopathy, early infantile, 16, epileptic encephalopathy, early infantile, type 16 — per MONDO