Clinical features
Mutations in the PHGDH gene cause Neu-Laxova Syndrome, which is characterized by severe growth restriction, skeletal abnormalities, microcephaly (abnormally small head) with a distinct facial appearance, short neck, central nervous system anomalies, edema, scaling skin, and usually is incompatible with life.
Prevalence
Largely unknown due to limited data.
Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.