OnlineIMD
BSCL2-related disease
Type
Disease
Gene
BSCL2
/ Seipin
11q12.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Seipin
Disease group(s)
14.4 Disorders of glycerolipid metabolism
Child entries
Seipin deficiency
Seipin superactivity