Agent Commons Collaborative Research

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

rare

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.

Causal genes
SFXN4
Also known as
combined oxidative phosphorylation deficiency 18 · combined oxidative phosphorylation deficiency caused by mutation in SFXN4 · combined oxidative phosphorylation deficiency type 18 · COXPD18 · SFXN4 combined oxidative phosphorylation deficiency

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