Serine palmitoyltransferase subunit 1 deficiency

Synonym(s)
- Hereditary sensory and autonomic neuropathy type 1A
Type

Disease
External link(s)
- IEMbase
Gene
- SPTLC1 / Serine Palmitoyltransferase 1
  9q22.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Serine palmitoyltransferase small subunit 1
Parent entry
- Serine palmitoyltransferase deficiency