Global Variome shared LOVD

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

Phenotype #0000083821 Individual ID 00105905 Associated disease OI Phenotype details osteogenesis imperfecta, multiple fractures, osteopenia, bowing of humeri, radii and tibiae, kyphoscoliosis, anterior vertebral wedging, short stature, fractures declined post puberty, pectus excavatum Diagnosis/Initial - Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Cecilia Giunta Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Cecilia Giunta Date created 2017-06-26 14:39:20 +02:00 (CEST) Date last edited 2017-06-27 08:40:52 +02:00 (CEST)

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