Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
Neu-Laxova syndrome 2
MONDO:0014466
neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency
MONDO:0035930