Phenotype #0000321950

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00431357
Associated disease	OI3
Phenotype details	see paper; ..., recurrent bone fractures, short stature, blue sclerae, triangular face, missing teeth, dentinogenesis imperfecta , skeletal deformities, scoliosis
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	OI3
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Kim Worring
Database submission license
Created by	Kim Worring
Date created	2023-02-09 15:51:37 +01:00 (CET)
Date last edited	2023-02-09 17:48:54 +01:00 (CET)

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