Global Variome shared LOVD

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Phenotype #0000028994 Individual ID 00038467 Associated disease - Phenotype details short stature, no 3rd and 4th toe shortening, no hearing loss, joint pain, see paper; progressive joint immobility, needed joint replacement surgery, progressive platyspondyly, progressive joint space narrowing, metaphyseal enlargement hands, no metatarsal shortening, ... Diagnosis/Initial osteoarthritis associated with mild spondyloepiphyseal involvement Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein - Owner name Isabelle Touitou Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Isabelle Touitou Date created 2015-05-08 18:28:06 +02:00 (CEST) Date last edited 2020-10-01 09:01:21 +02:00 (CEST)

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