Neu-Laxova syndrome 1

Definition

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.

Also known as 3-Phosphoglycerate dehydrogenase deficiency, neonatal form, 3-phosphoglycerate dehydrogenase deficiency, prenatal form, Neu-Laxova syndrome 1, Neu-Laxova syndrome caused by mutation in PHGDH, Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency, Neu-Laxova syndrome type 1, PHGDH Neu-Laxova syndrome — per MONDO

Also identified as

• DOID 0080076 per MONDO
• OMIM 256520 per MONDO
• Orphanet 583607 per MONDO
• UMLS C4551478 per MONDO