Global Variome shared LOVD

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

Phenotype #0000353598 Individual ID 00468446 Associated disease CTRCT Phenotype details cortical cataract, pulverulent cataract; symmetrical opacities; macular hypoplasia, high myopia, cardiac defects, joint hypermobility Diagnosis/Initial bilateral cataract Inheritance Familial, autosomal recessive Diagnosis/Definite KNO1 Age/Examination - Age/Diagnosis - Age/Onset 5y 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.