ORPHA:168454
NANS-CDG
Also called SEMD, Geneviève type, SEMDG, N-acetylneuraminic acid-9-phosphate synthase deficiency, Spondyloepimetaphyseal dysplasia Camera-Genevieve type, Spondyloepimetaphyseal dysplasia, Geneviève type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:168454 is classified under "Bone diseases" in the Orphanet nomenclature.