Literature describing AMMECR1 is sparse; its description and name (Alport syndrome, Mental retardation, Midface hypoplasia and Elliptocytosis Chromosomal Region gene 1) is derived from its cytogenic location within Xq22.3–Xq23 and its previous association with a very rare contiguous gene deletion syndrome originally named Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis (AMME). Here, AMMECR1 is linked to hereditary elliptocytosis.