Phenotype #0000356947

Individual ID	00372761
Associated disease	OI
Phenotype details	0.08 y-first fracture, 20 fractures; height Z -1.09; no scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BRKS2
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2026-01-11 11:52:43 +01:00 (CET)
Date last edited	N/A

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