OnlineIMD
PNPLA4 deficiency
Type
Disease
External link(s)
IEMbase
Gene
PNPLA4
/ patatin like phospholipase domain containing 4
Xp22.31
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Patatin-like phospholipase domain-containing protein 4
Disease group(s)
19.1 Disorders of mitochondrial membrane biogenesis and remodeling