The chromosomal region Xq22.3–Xq23 encompasses the entire COL4A5 gene and its adjacent genes extending towards the telomere: GUCY2F, NXT2, KCNE1L, ACSL4, TMEM164, MIR3978, AMMECR1, SNORD96B, RGAG1, TDGF3, CHRDL1, PAK3 and DCX. Deletions in this region have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability, midface hypoplasia and elliptocytosis (AMME (MIM: 300194)). This evidence concerns the gene COL4A5 and Alport syndrome.