Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000353595 Individual ID 00468443 Associated disease CTRCT Phenotype details posterior polar/nuclear cataract; no symmetrical opacities; microphthalmia, microcornea, laterally curved eyebrow, camptodactyly of toe, cardiac defects, teeth defects Diagnosis/Initial bilateral cataract Inheritance Familial, X-linked dominant Diagnosis/Definite MCOPS2 Age/Examination - Age/Diagnosis - Age/Onset 1y 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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