Phenotype #0000087499

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00111413
Associated disease	NS8
Phenotype details	Osteogenesis imperfecta due to a de novo mutation in COL1A1, heart defect, bronchopulmonal dysplasia, tracheostoma, severe ID, short stature, facial dysmorphism
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Bernt Popp
Database submission license	No license selected
Created by	Bernt Popp
Date created	2017-08-03 07:46:25 +02:00 (CEST)
Date last edited	2017-08-04 09:29:30 +02:00 (CEST)

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