Table 2

Overview on molecularly defined types of multiple epiphyseal dysplasia

MIM numberGeneChromosomal mappingInheritance
EDM1*600310 COMP 19p13.1Dominant
EDM2600204 COL9A2 1p33-p32Dominant
EDM3600969 COL9A3 20q13.3Dominant
EDM4226900 DTDST 5q32–q33.1Recessive
*120210 COL9A1 6q13Dominant
EDM5*602109 MATN3 2p24-p23Dominant