developmental and epileptic encephalopathy, 44
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.
MONDO:0018614
undetermined early-onset epileptic encephalopathy
is_a
MONDO:0100455
neonatal-onset developmental and epileptic encephalopathy
is_a
DEE44
exact
EIEE44
exact
UBA5 early infantile epileptic encephalopathy
exact
developmental and epileptic encephalopathy 44
exact
early infantile epileptic encephalopathy caused by mutation in UBA5
exact
epileptic encephalopathy, early infantile, 44
exact
epileptic encephalopathy, early infantile, 44; EIEE44
exact
epileptic encephalopathy, early infantile, type 44
exact
SPAC1A6.10 SPAC323.06c