developmental and epileptic encephalopathy, 5
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.
MONDO:0018097
infantile spasms
is_a
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
DEE5
exact
EIEE5
exact
SPTAN1 early infantile epileptic encephalopathy
exact
developmental and epileptic encephalopathy 5
exact
early infantile epileptic encephalopathy caused by mutation in SPTAN1
exact
epileptic encephalopathy, early infantile, 5
exact
epileptic encephalopathy, early infantile, type 5
exact