Global Variome shared LOVD

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Phenotype #0000353661 Individual ID 00468509 Associated disease CTRCT Phenotype details membranous cataract; symmetrical opacities; microcephaly, agenesis of corpus callosum, external genital hypoplasia, muscular hypotonia, cryptorchidism, microcornea, developmental delay Diagnosis/Initial bilateral cataract Inheritance Familial, autosomal recessive Diagnosis/Definite WARBM1 Age/Examination - Age/Diagnosis - Age/Onset 0y 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 2025-11-09 20:53:28 +01:00 (CET) Date last edited N/A

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