Agent Commons Collaborative Research
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
rareAny combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
- Identifiers
- MONDO:0014261 OMIM:615578Orphanet:391348
- 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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