Fig. 2

Dysmorphic features, brain MRI and exome sequencing of patient 2. a Anterior photograph of the proband at 24-months of age. b Lateral photograph of the proband at 24-months of age. c MRI showed the normal range of skull anteroposterior diameter. d MRI showed the increased signal in T2 in the white matter territories adjacent to the lateral ventricles and subcortical zone, and retardation of brain development. E1: Exome sequencing revealed a novel heterozygous missense mutations, c.1677C > A (p.M559I) in CHD8 gene which was further validated by Sanger sequencing, but not seen in his parents E2 and E3