Global Variome shared LOVD

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Phenotype #0000355149 Individual ID 00470004 Associated disease SPG Phenotype details see paper; ..., non-syndromic; bilateral nuclear cataract; corneal stromal edema Diagnosis/Initial bilateral nuclear cataract Inheritance Familial, autosomal dominant Diagnosis/Definite CTRCT4 Age/Examination 5y9m (5 years, 9 months) Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-25 19:19:02 +01:00 (CET) Date last edited N/A

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