Phenotype #0000058568

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
Database submission 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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