Global Variome shared LOVD

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Phenotype #0000337265 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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