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Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary hyperekplexia
Hyperekplexia - epilepsy
Amyotrophic lateral sclerosis
Fanconi anemia
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Phosphoenolpyruvate carboxykinase 1 deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Synonym(s):
- Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
- MOCOD type C
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GPHN Q9NQX3603930
No signs/symptoms info available.