Multiple Epiphyseal Dysplasia - Inheritance

Inheritance

Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, most of which are inherited in an autosomal dominant form. However, there is also an autosomal recessive form.

Associated genes include COL9A2, COL9A3, COMP, and MATR3.

Types include:

Type OMIM Gene
EDM1 132400 COMP
EDM2 600204 COL9A2
EDM3 600969 COL9A3
EDM4 226900 DTDST
EDM5 607078 MATN3
EDM6 120210 COL9A1

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