Global Variome shared LOVD

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Phenotype #0000268051 Individual ID 00372774 Associated disease OI Phenotype details The authors were contacted for further clarification of the OI type. They stated that the patient had some cole-carpenter syndrome but not very typical. The patient had a broad face, mild ocular proptosis, and a flat nasal bridge, whereas blue sclera, a wide-open fontanelle, and a small nose were not observed. Diagnosis/Initial OI Inheritance Unknown Diagnosis/Definite - 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 2019-08-16 11:40:58 +02:00 (CEST) Date last edited 2021-05-16 12:09:24 +02:00 (CEST)

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