A de novo heterozygous mutation in the UAP1 gene (NM_001324114:c.G685A:p.A229T, DDD entry: https://decipher.sanger.ac.uk/ddd/research‐variant/c9774b30226f59f8c1f79a7578fe5fc3/overview), which encodes a missense variant UAP1A229T, has been identified in a patient from the DDD study with reported cranial and skeletal abnormalities and intellectual disability. This evidence concerns the gene UAP1 and Intellectual disability.