<unk>  is a heterogeneous metabolic disorder caused by homozygous or compound heterozygous mutations in one of three genes: PHGDH, PSAT1 and PSPH These genes are involved in the serine biosynthesis pathway and are essential for cell proliferation. Mutations in all three genes had been previously identified as the cause of serine-deficiency syndromes. Although there is some clinical overlap between NLS and these<unk> rometabolic disorders, the phenotype in other serine-deficiency disorders is milder.
Neu–Laxova syndrome
Barré–Liéou syndrome
complications of Myotonic dystrophy
Parkes Weber syndrome
Hapnes Boman Skeie syndrome
Zadik–Barak–Levin syndrome
Catel–Manzke syndrome
Temple–Baraitser syndrome