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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