2016). She passed away too early to manifest further features aside from the typical microcephaly, growth retardation and dysmorphic facial features. We have shown that she carries the same TELO2 mutations, although her presentation was not identical to her sister's. Intra‐familial variability in the clinical presentation was noted in the original Family 1 described by You et al. (2016). The gene discussed is TELO2; the disease is microcephaly.