Phenotype #0000174526

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00234105
Associated disease	OI
Phenotype details	Height/weight 50th%; blue sclerae (HP:000592)
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	OI-1
Age/Examination	11m
Age/Onset	-
Phenotype/Onset	-
Protein	no collagen screen performed
Owner name	Global Variome, with Curator vacancy
Database submission license
Created by	Global Variome, with Curator vacancy
Date created	2019-01-13 12:23:00 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.