Phenotype #0000058564

Individual ID 00078805
Associated disease GDD
Phenotype details cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, jaw bones sclerosis, right jaw angle structural rearrangement, jaw odontoid cystis with included tooth purulent osteomyelitis; raised CPK (HP:0003236) 809 mU/ml
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 41y (41 years)
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset spontaneous fractures thighbones, slow healing
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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