/developmental and epileptic encephalopathy, 55

developmental and epileptic encephalopathy, 55

Rare Disease

MONDO:0033364

Also Known As

DEE55EIEE55developmental and epileptic encephalopathy 55epileptic encephalopathy, early infantile, 55glycosylphosphatidylinositol biosynthesis defect 14infantile epileptic encephalopathy 55

Definition

A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.