developmental and epileptic encephalopathy, 42
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.
MONDO:0018614
undetermined early-onset epileptic encephalopathy
is_a
MONDO:0100254
CACNA1A-related complex neurodevelopmental disorder
is_a
MONDO:0100455
neonatal-onset developmental and epileptic encephalopathy
is_a
CACNA1A early infantile epileptic encephalopathy
exact
DEE42
exact
EIEE42
exact
developmental and epileptic encephalopathy 42
exact
early infantile epileptic encephalopathy caused by mutation in CACNA1A
exact
epileptic encephalopathy, early infantile, 42
exact
epileptic encephalopathy, early infantile, 42; EIEE42
exact
epileptic encephalopathy, early infantile, type 42
exact