Pedigree of the family and key clinical features of patient V10 in this study. a) The main characteristics of autosomal recessive inheritance including consanguinity and multiple affected children of both sexes can be seen in this pedigree. Circles and squares denote females and males respectively, filled symbols represent affected members, double lines denote consanguineous marriage. WT: wild-type; Mt: mutant for c.1423 + 2 T > A.
b) a & b, Front and lateral facial photographs of patient V10 showing squint, bulbous nose, low set ears with simple helix and mild micrognathia. c, Asymmetric buttocks of patient V10 with the right side smaller and the fold is higher than the left. d, T1 saggital view showing cerebellar hypoplasia. e, T2 axial view showing diffuse increased signal in white matter