developmental and epileptic encephalopathy, 55
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.
MONDO:0002525
inherited lipid metabolism disorder
is_a
MONDO:0024321
disorder of GPI anchor biosynthesis
is_a
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
DEE55
exact
EIEE55
exact
developmental and epileptic encephalopathy 55
exact
epileptic encephalopathy, early infantile, 55
exact
SPAC22A12.13