AMeD syndrome is caused by digenic mutations in biallelic ADH5 and at least one allele of ALDH2. When ALDH2 is mutated in both allele (biallelic mutation), short stature and developmental delay tend to be more severe than cases with heterozygous, monoallelic mutations of ALDH2 [1]. The gene discussed is ADH5; the disease is AMED syndrome, digenic.