Phenotype #0000085556

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00107793
Associated disease	HLPS
Phenotype details	fractures, cortical thickening and widening of the diaphysis of the long bones, cranial base sclerosis, broad ribs with sclerosis, and platyspondyly;
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2012-08-15 18:32:41 +02:00 (CEST)
Date last edited	N/A

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