Global Variome shared LOVD

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Phenotype #0000157282 Individual ID 00208664 Associated disease EXT1 Phenotype details multiple exostoses (HP:0002762); bilateral arm humerus; exostoses right radius (HP:0003986); exostoses right ulna (HP:0003985); exostoses hand (HP:0004276); exostoses leg, bilateral knees, bilateral fibula, bilateral tibia/shin bone; exostoses foot, bilateral calcaneus, bilateral talus; exostoses chest, scapula Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Carmela Fusco Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2018-12-13 00:04:24 +01:00 (CET) Date last edited 2022-10-07 16:21:13 +02:00 (CEST)

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