Global Variome shared LOVD

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Phenotype #0000157339 Individual ID 00208721 Associated disease EXT2 Phenotype details multiple exostoses (HP:0002762); exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, right femur/thigh bones, right fibula, bilateral tibia/shin bone; exostoses chest, scapula; deformed radius and ulna shortening; distal synostosis of the fibula and tibia Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 38y (38 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 16:46:52 +02:00 (CEST)

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