Spondyloepiphyseal Dysplasia, Maroteaux Type (SEDM)

Spondyloepiphyseal Dysplasia, Maroteaux Type, also known as pseudo-morquio syndrome type 2, is related to hereditary motor and sensory neuropathy, type iic and metatropic dysplasia. An important gene associated with Spondyloepiphyseal Dysplasia, Maroteaux Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Ion channel transport and Interaction between L1 and Ankyrins. Affiliated tissues include bone and breast, and related phenotypes are mucopolysacchariduria and intellectual disability