Global Variome shared LOVD

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Phenotype #0000058566 Individual ID 00078807 Associated disease GDD Phenotype details cemento-osseous lesions jaw bones, purulent osteomyelitis, bilateral osteolysis, jaw structural rearrangement, slow-healing fractured right knee/V left finger; raised CPK (HP:0003236) 89 mU/ml Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 76y (76 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset spontaneous fractures Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-11-16 15:05:12 +01:00 (CET) Date last edited N/A

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