Heterozygous 12p12 deletions and a reciprocal t(11;12) translocation disrupting either SOX5 alone or SOX5 together with other genes have been reported in patients presenting with ID, global developmental delay, language and motor impairment, and mild dysmorphic facial features [35], which collectively characterize the neurodevelopmental disorder Lamb-Shaffer syndrome (OMIM-616803). This evidence concerns the gene SOX5 and Lamb-Shaffer syndrome.