AMMECR1 and Andersen-Tawil syndrome: In case of ATS-ID, exome sequencing analyses provided data connecting missense and nonsense pathogenic variants in AMMECR1 with occurrence of elliptocytosis, cardiac and bone defects, ID, and midface hypoplasia (Andreoletti et al., 2017; Basel-Vanagaite et al., 2017; Moyses-Oliveira et al., 2018).