Phenotype #0000268075

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00372798
Associated disease	OI
Phenotype details	0.63 y-first fracture, 20 fractures; height Z 1.32; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Xiuli Zhao
Database submission license	No license selected
Created by	Xiuli Zhao
Date created	2018-09-26 09:39:42 +02:00 (CEST)
Date last edited	2026-01-12 09:34:50 +01:00 (CET)

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