In addition, the following diseases (five cases) have been diagnosed: Schaaf–Yang syndrome (OMIM:615547), hypotonia infantile with psychomotor retardation and characteristic facies 1 syndrome (IHPRF1, OMIM:611549), surfactant metabolism dysfunction pulmonary 3 (SMPD3, OMIM:610921), nemaline myopathy (OMIM:161800), and neurofascin defect (OMIM:618356). This evidence concerns the gene SMPD3 and nemaline myopathy.