developmental and epileptic encephalopathy, 40
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.
MONDO:0018097
infantile spasms
is_a
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
DEE40
exact
EIEE40
exact
GUF1 early infantile epileptic encephalopathy
exact
developmental and epileptic encephalopathy 40
exact
early infantile epileptic encephalopathy caused by mutation in GUF1
exact
epileptic encephalopathy, early infantile, 40
exact
epileptic encephalopathy, early infantile, 40; EIEE40
exact
epileptic encephalopathy, early infantile, type 40
exact
SPAC1B3.04c