It is therefore noteworthy that a nonsynonymous 1358G>A (C453Y) mutation in exon 5 of the TMEM2 gene, which is predicted to be pathogenic, has been identified in an individual with hypertelorism, myopia, retinal dystrophy, abnormality of the sternum, joint laxity, and inguinal hernia (ClinVar, NCBI, NIH: accession number: VCV000827846 and VCV000827847). The gene discussed is CEMIP2; the disease is Retinal dystrophy.