DCBLD2 and cardiomyopathy, familial restrictive, 1: In this study, we report the identification and functional characterization of a novel homozygous nonsense mutation in exon 1/16 of the DCBLD2 gene (c.80G > A, p.W27*) in a Saudi patient presenting with a multisystem disorder including RCM, developmental delay, spasticity and dysmorphic features.