Phenotype #0000058565

Individual ID 00078806
Associated disease GDD
Phenotype details spontaneous fractures vertebras, fibula, thighbones, radius/ulna, III right metatarsus, right iliac wing, hallux, healing problems after extraction wisdom teeth, cotton-wool-like pattern bony structure mandible, bone thickening jaws, areas cotton-wool-like pattern of alveolar region; raised CPK (HP:0003236) 112 mU/ml
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 42y (42 years)
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset spontaneous fractures
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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