Cyclic pyranopterin monophosphate synthase deficiency

Synonym(s)
- Molybdenum cofactor deficiency type A
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MOCS1 / Molybdenum Cofactor Synthesis 1
  6p21.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Molybdenum cofactor biosynthesis protein 1
Disease group(s)
- 21.10 Disorders of molybdenum cofactor metabolism