Notably, a point mutation in the human ortholog of SPAC688.03c, AMMECR1, is associated with Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) (Vitelli et al. 1999; Andreoletti et al. 2017). This evidence concerns the gene AMMECR1 and hereditary elliptocytosis.