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Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
rareA molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.
- Identifiers
- MONDO:0014212 OMIM:615501Orphanet:308400
- Causal genes
- GPHN
- Also known as
- combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · MOCOD type C · MOCODC · molybdenum cofactor deficiency C · molybdenum cofactor deficiency, complementation group C
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