Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type (SMDMDM)

Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type, also known as autosomal recessive spondylometaphyseal dysplasia, megarbane type, is related to 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome and 3-methylglutaconic aciduria, type i. An important gene associated with Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type is PAM16 (Presequence Translocase Associated Motor 16), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Mitochondrial calcium ion transport. Affiliated tissues include bone and tongue, and related phenotypes are postnatal growth retardation and narrow chest