Sphingomyelin synthase 2 deficiency

Synonym(s)
- Osteoporosis with calvarial doughnut lesions
Type

Disease
External link(s)
- IEMbase
Gene
- SGMS2 / sphingomyelin synthase 2
  4q25
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- sphingomyelin synthase 2
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling