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skos:definition |
MSH: Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.,NCI: A rare, autosomal recessive or dominant inherited connective tissue disorder. The autosomal recessive variant is caused by mutations in the ADAMTS10 gene. It is characterized by abnormalities in the lens of the eye, short stature, brachydactyly, and joint stiffness.
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