Phenotype #0000199334

Individual ID 00260782
Associated disease OI1
Phenotype details 1 fracture,
(HP:0000703) Dentinogenesis imperfecta,
(HP:0002980) Femoral bowing,
(HP:0000592) Blue sclerae
Diagnosis/Initial short stature
Inheritance Familial, autosomal dominant
Diagnosis/Definite short stature and osteogenesis imperfecta, type I
Age/Examination 05y11m (5 years, 11 months)
Age/Diagnosis 06y?
Age/Onset ?
Phenotype/Onset ?
Protein ?
Owner name Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu
Date created 2019-08-08 02:47:43 +02:00 (CEST)
Date last edited 2019-08-09 16:55:35 +02:00 (CEST)

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