Among these 15 reported cases, 2 were found to carry FIG 4 gene mutation without RUNX2 gene mutations, 1 patient was diagnosed as Ritscher-Schinzel syndrome, 2 subjects’ weakness were secondary to cervical myelopathy, 8 cases were lacking of detailed descriptions of the weakness and the remaining 2 cases presented with limb-girdle myopathy (Table 1). Here, RUNX2 is linked to Ritscher-Schinzel syndrome.