Global Variome shared LOVD

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Phenotype #0000334147 Individual ID 00444897 Associated disease CTRCT Phenotype details see paper; ..., bilateral cataract, 17y-severe glaucoma, visual acuity R 6/15 L unobtainable; mother nuclear dot cataracts, early L posterior subcapsular cataract, HCD 10.5mm Diagnosis/Initial cataract Inheritance Familial, autosomal recessive Diagnosis/Definite CTRCT1 Age/Examination - Age/Diagnosis - Age/Onset - 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 2023-12-28 19:27:56 +01:00 (CET) Date last edited N/A

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