Phenotype #0000174515

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00234094
Associated disease	OI
Phenotype details	short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Joint laxity; was on intravenous bisphosphonate s
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	OI-1
Age/Examination	8y (8 years)
Age/Onset	-
Phenotype/Onset	-
Protein	Abnormal proα1(I) chains
Owner name	Global Variome, with Curator vacancy
Database submission license
Created by	Global Variome, with Curator vacancy
Date created	2019-01-13 12:23:00 +01:00 (CET)
Date last edited	N/A

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