Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000281250 Individual ID 00321353 Associated disease OI Phenotype details father OI1 patient with blue sclerae and history of four fractures in childhood; mother no obvious symptoms except significantly low bone mineral density Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal dominant Diagnosis/Definite OI1 Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Xiuli Zhao Database submission license No license selected Created by Johan den Dunnen Date created 2021-10-30 12:10:20 +02:00 (CEST) Date last edited N/A

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