Phenotype #0000268201

Individual ID	00372925
Associated disease	OI
Phenotype details	1.50 y-first fracture, 55 fractures; height Z -7.19; 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	OI6
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Xiuli Zhao
Database submission license	No license selected
Created by	Xiuli Zhao
Date created	2018-09-25 14:03:43 +02:00 (CEST)
Date last edited	2026-01-12 09:10:20 +01:00 (CET)

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