Ceramide synthase 1 deficiency

Synonym(s)
- Progressive myoclonic epilepsy type 8
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CERS1 / Ceramide Synthase 1
  19p13.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ceramide synthase 1
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling