encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0014960
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
is_a
NAD(P)HX epimerase deficiency
exact
PEBEL1
related
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
broad
encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy
broad
SPAC15A10.05c