Phenotype #0000244917

Individual ID	00326449
Associated disease	OI
Phenotype details	see paper; ..., birth 34w, weight 1,550 g (−2.8 SD), length 43 cm (−2.58 SD); no prenatal fractures; 11m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia; no hypermobility joints; slight conductive hearing loss due to adenoid hyperplasia; 5 old fractures of extremities, multiple fractures of vertebrae, ribs, both scapulae; retarded gross motor function
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	OI20
Age/Examination	8y4m (8 years, 4 months)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-01-12 19:02:52 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD