OnlineIMD
Serine palmitoyltransferase subunit 2 deficiency
Synonym(s)
Hereditary sensory and autonomic neuropathy type 1C
Type
Disease
External link(s)
IEMbase
Gene
SPTLC2
/ Serine Palmitoyltransferase Subunit 2
14q24.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Serine palmitoyltransferase subunit 2
Parent entry
Serine palmitoyltransferase deficiency