Interestingly, in addition to the typical SHFM1 manifestation, one sporadic case, harboring a reciprocal translocation t(7;12)(q21.3;q21.2), presented features overlapping with Baker–Gordon syndrome (BAGOS) (OMIM 618218). Here, SEM1 is linked to infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome.