OnlineIMD
VAC14 deficiency
Synonym(s)
Childhood-onset striatonigral degeneration
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
VAC14
/ VAC14 Golgi Associated Trafficking Factor
16q22.1-q22.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Trafficking factor VAC14
Disease group(s)
14.5.2 Disorders of phosphatidylinositol metabolism