Phenotype #0000356972

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00472163
Associated disease	OI1
Phenotype details	0.25 y-first fracture, 5 fractures; height Z -3.75; 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	OI11
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Xiuli Zhao
Database submission license
Created by	Johan den Dunnen
Date created	2026-01-12 09:58:13 +01:00 (CET)
Date last edited	N/A

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