/developmental and epileptic encephalopathy, 16

developmental and epileptic encephalopathy, 16

Rare Disease

MONDO:0014133

Also Known As

DEE16EIEE16developmental and epileptic encephalopathy 16epileptic encephalopathy, early infantile, 16epileptic encephalopathy, early infantile, type 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.