Phenotype #0000244916

Individual ID 00326448
Associated disease OI
Phenotype details see paper; ..., 1y5m-deceased (sepsis); birth 39w, weight 2,135 g (-2.35 SD), length 45 cm (−1.93 SD); prenatal fractures; bluish sclera; no dentinogenesis imperfecta; no hypermobility joints; patent foramen ovale with small left to right shunt; no hearing impairment; old fractures of extremities, no vertebral/thoracic cage fractures; retarded gross motor function
Diagnosis/Initial osteogenesis imperfecta
Inheritance Familial, autosomal recessive
Diagnosis/Definite OI20
Age/Examination 1y5m (1 year, 5 months)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-01-12 19:02:52 +01:00 (CET)
Date last edited N/A

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