Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Definition
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
Also known as combined oxidative phosphorylation deficiency caused by mutation in SFXN4, combined oxidative phosphorylation deficiency type 18, SFXN4 combined oxidative phosphorylation deficiency — per MONDO