Neu-Laxova syndrome 1

Neu-Laxova syndrome 1 is a very rare condition that is caused by a mutation in the PHGDH gene. This condition is one form of Neu-Laxova syndrome and has been known by several names, including 3-Phosphoglycerate dehydrogenase deficiency (both neonatal and prenatal forms) and PHGDH Neu-Laxova syndrome, among others. The information available describes this condition as one in which the mutation in the PHGDH gene is the key factor. Although details related to the full spectrum of clinical features are limited, this definition helps in understanding that the genetic change is central to the condition's development.

Information about symptoms is currently limited for this condition.

Neu-Laxova syndrome 1 is caused by a mutation in the PHGDH gene. This genetic defect leads to the development of the condition and is recognized as the primary cause. The condition is defined based on this mutation, which is why it is distinctly referred to as Neu-Laxova syndrome 1.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.