Conversely to children with SGS, individuals with SETBP1-haploinsufficency disorder experience a far less medically involved phenotype, characterised by a severe speech movement disorder (typically childhood apraxia of speech with accompanying dysarthria in some), language disorder, mild to average cognitive ability and mild vision impairment [11, 12]. This evidence concerns the gene SETBP1 and Schinzel-Giedion syndrome.