N-acetylneuraminic acid-9-phosphate synthase deficiency

Synonym(s)
- NANS-CDG,
- spondyloepimetaphyseal dysplasia Camera-Genevieve type
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- NANS / N-acetylneuraminate synthase
  9q22.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- N-acetylneuraminate synthase
Disease group(s)
- 18.4.4 Disorders of sialic acid metabolism