OnlineIMD
PNPLA6 deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
PNPLA6
/ patatin like phospholipase domain containing 6
19p13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Patatin-like phospholipase domain-containing protein 6
Disease group(s)
14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
Child entries
Boucher-Neuhauser syndrome
Autosomal recessive spastic paraplegia type 39
Laurence-Moon syndrome
Oliver-McFarlane syndrome