Phenotype #0000238553

Individual ID	00314755
Associated disease	OI
Phenotype details	first assessment 29y; height 121 cm; no confirmed prenatal fractures; 32m-first fracture; 26 fractures; 28y-last fracture right femur right, 29y-right femoral neck; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; barrel shaped chest with pectus excavatum; no cardiac abnormalities; vertebral fractures; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; 4.5y-wheelchair bound; no intellectual disability
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	39y (39 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-16 20:38:23 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD