Phenotype #0000337265

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00038386
Associated disease	BCS2
Phenotype details	see paper; ..., blue sclera, significant corneal thinning, high myopia with choroidal neovascularization, scoliosis, arachnodactyly, joint hypermobility
Diagnosis/Initial	brittle cornea syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BCS2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2024-02-14 14:18:00 +01:00 (CET)
Date last edited	N/A

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