A comparison of MRI neuroimaging from patients with TUBA1A-, TUBB2B- and TUBB3-associated disease revealed some consistent phenotypical outcomes with a combination of microcephaly, ventriculomegaly, abnormal gyral and sulcal patterns (including microlissencephaly, lissencephaly and pachygyria), cerebellar vermis hypoplasia, small or absent corpus callosum and small pons being highly suggestive of an underlying tubulin mutation (Mutch et al., 2016). The gene discussed is TUBA1A; the disease is Pachygyria.