Phenotype #0000085543

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00107780
Associated disease	HLPS
Phenotype details	recurrent transient erythematous papules on the lower abdomen, fractures, cortical thickening and widening of the diaphysis of the long bones, cranial base sclerosis, broad ribs with sclerosis, and platyspondyly; Dysosteosclerosis
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2012-08-15 18:22:07 +02:00 (CEST)
Date last edited	2012-08-15 18:25:54 +02:00 (CEST)

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