Clinical features
Mutations in the PHGDH gene cause Neu-Laxova Syndrome 1 (NLS1), a lethal multiple-congenital anomaly syndrome characterized by severe growth restriction, skeletal anomalies, microcephaly with distinct facies, short neck, central nervous system anomalies (including lissencephaly and cerebellar hypoplasia), generalized tissue edema, ichthyosis, and perinatal lethality.
Prevalence
The prevalence of PHGDH-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
PHGDH-related disorder is inherited in an autosomal recessive manner.