This diversity is further reflected in the phenotypic heterogeneity seen with the same TUBB2B variant, as illustrated by a family carrying the c.530A>T (p.Asp177Val) mutation: the healthy carrier parent only showed childhood language delay, while the affected son had mild neurodevelopmental delay and tubulinopathy-consistent MRI findings, and a fetus was severely affected with microcephaly and major brain anomalies7. This evidence concerns the gene TUBB2B and tubulinopathy.