Neutral sphingomyelinase 3 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- SMPD4 / Sphingomyelin Phosphodiesterase 4
  16p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sphingomyelin phosphodiesterase 4
Disease group(s)
- 20.1 Disorders of sphingolipid degradation