developmental and epileptic encephalopathy, 48
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
AP3B2 early infantile epileptic encephalopathy
exact
DEE48
exact
EIEE48
exact
developmental and epileptic encephalopathy 48
exact
early infantile epileptic encephalopathy caused by mutation in AP3B2
exact
epileptic encephalopathy, early infantile, 48
exact
epileptic encephalopathy, early infantile, 48; EIEE48
exact
epileptic encephalopathy, early infantile, type 48
exact
SPAC23H3.06