A missense mutation in the <i>CRBN</i> gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family

Abstract

These findings thus contribute to a growing list of ID disorders caused by <i>CRBN</i> mutations, broaden the spectrum of phenotypes attributable to ARNS-ID and provide new insight into genotype-phenotype correlations between <i>CRBN</i> mutations and the aetiology of ARNS-ID.