Phenotype #0000058568

Individual ID 00078809
Associated disease GDD
Phenotype details cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, slow-healing fractured thighbones/humerus; raised CPK (HP:0003236) 132 mU/ml
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 75y (75 years)
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset spontaneous fractures
Protein -
Owner name Johan den Dunnen