(a–c). Patient LR05-054a1 at 16 months of age.
(d). Patient LR05-054a2 at 2 years of age showing microcephaly, low sloping forehead, proportionately large ears and nose, a prominent nose, micrognathia, and severe growth deficiency.
(e). T1-weighted mid-sagittal and (f). T2-weighted axial brain MRI images of LR05-054a1 at 17 days of life show severe microcephaly, with low-sloping forehead, severely simplified gyral pattern with virtually no gyri in the frontal region, mildly increased extra-axial space, and disproportionately small cerebellar vermis.