mesomelia-synostoses syndrome Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. (Orphanet Rare Disease Ontology, Orphanet_2496)
External Link http://www.omim.org/entry/600383
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Genes

1 genes associated with the mesomelia-synostoses syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
DEL8Q13 Mesomelia-synostoses syndrome