Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000157358 Individual ID 00208740 Associated disease EXT2 Phenotype details multiple exostoses (HP:0002762); exostoses right radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses hand (HP:0004276), left metacarpals, right phalanges; exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone; exostoses chest, bilateral ilium Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 21y (21 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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