Phenotype #0000244920

Individual ID	00326452
Associated disease	OI
Phenotype details	see paper; ..., 7m-deceased (respiratory arrest); birth 37w, weight 2,465 g (−1.73 SD), length 42 cm (−2.94 SD); prenatal fractures; bluish sclera; no eye abnormalities; no hypermobility joints; no cardiac impairments; old fractures fractures of both humeri, ribs, femur, and clavicle, multiple fractures ribs; retarded gross motor function
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	OI20
Age/Examination	7m
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