growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD18
related
SFXN4 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation deficiency 18
related
combined oxidative phosphorylation deficiency caused by mutation in SFXN4
exact
combined oxidative phosphorylation deficiency type 18
exact
SPAC17G6.15c