Condition: NEU-LAXOVA SYNDROME 1


rs267606948 in PHGDH gene and NEU-LAXOVA SYNDROME 1 PMID 19235232 2009 Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

rs587777483 in PHGDH;LOC105378936 gene and NEU-LAXOVA SYNDROME 1 PMID 24836451 2014 Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.