OnlineIMD
VPS53 deficiency
Type
Disease
Gene
VPS53
/ VPS53 vacuolar protein sorting 53 homolog
17p13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Vacuolar protein sorting-associated protein 53 homolog
Disease group(s)
19.6.4 Other disorders of vesicular trafficking