Interestingly, mutations in the MAF gene also lead to a build-up of the protein, resulting in impaired phosphorylation, ubiquitination and degradation of the mutated (unphosphorylated and unubiquitinated) protein and associated with a developmental syndrome with a distinctive facial appearance, sensorineural deafness, brachycephaly, intellectual disability, seizures and skeletal abnormalities20. This evidence concerns the gene MAF and Intellectual disability.