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.

Also known as: SFXN4 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency caused by mutation in SFXN4, combined oxidative phosphorylation deficiency type 18, COXPD18, combined oxidative phosphorylation deficiency 18

13 clinical trials for this condition and its sub-types, 0 tagged with Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome itself.