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Weill-Marchesani syndrome 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.
Uniprot Description A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.
Mondo Term and Equivalent IDs
MONDO:0013899:  Weill-Marchesani syndrome 3
UMLS:C3553785: