Complex I deficiency in association with structural abnormalities of the diaphragm and brain.
Ellaway
C
C
Western Sydney Genetics Program, Royal Alexandra Hospital for Children, Parramatta, NSW, Australia.
North
K
K
Arbuckle
S
S
Christodoulou
J
J
D000140:Acidosis, Lactic / Q000151:congenital*; D001921:Brain / Q000002:abnormalities*; D003964:Diaphragm / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency*
D016660:NAD(P)H Dehydrogenase (Quinone)