Global Variome shared LOVD

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Phenotype #0000268042 Individual ID 00372766 Associated disease OI Phenotype details see paper; ..., marked joint laxity, progressive scoliosis, short stature, normal cognition with mild dysmorphic features (short neck, low-set ears and blue sclera, a narrow palate, exces- sive dental caries (easily broken teeth) and ulcers on the tongue) and pectus excavatum Diagnosis/Initial OI/EDS Inheritance Familial, autosomal dominant Diagnosis/Definite OI17 Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Raymond Dalgleish Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Raymond Dalgleish Date created 2021-05-11 16:48:16 +02:00 (CEST) Date last edited 2025-06-05 20:12:55 +02:00 (CEST)

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