Rs10087163

From SNPedia

Venter snp
Source	plos
Gene	PXMP3
allele	G
frequency	0.992
sift	TOLERATED
HuRef	1103652358324
Disease Association	Defects in PXMP3 are the cause of infantile Refsum disease (IRD) (MIM:266510). IRD is a progessively less severe form of the PBDs. Features include early onset, mental retardation, minor facial dysmorphism, retinitis pigmentosa, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.