Phenotype #0000044569

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00057919
Associated disease	PN
Phenotype details	osteopetrosis at 2 months; increased bone density; sclerosis of vertebrae and skull; delayed skeletal maturation
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	21y
Age/Onset	6m
Phenotype/Onset	-
Protein	-
Owner name	Ludovica Volpi
Database submission license	No license selected
Created by	Ludovica Volpi
Date created	2011-09-14 17:17:35 +02:00 (CEST)
Date last edited	2011-09-15 21:41:11 +02:00 (CEST)

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