/combined oxidative phosphorylation deficiency

/growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

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

Rare Disease

MONDO:0014261

Also Known As

SFXN4 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency caused by mutation in SFXN4combined oxidative phosphorylation deficiency type 18COXPD18combined oxidative phosphorylation deficiency 18

Definition

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

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Comprehensive, easy-to-understand information about this condition

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Associated Genes

SFXN4 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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hypotonia with lactic acidemia and hyperammonemia

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

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases