ehlers-danlos syndrome, progeroid type, 2 Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (Human Disease Ontology, DOID_0050802)
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1 genes associated with the ehlers-danlos syndrome, progeroid type, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6