Global Variome shared LOVD

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

Phenotype #0000333352 Individual ID 00444097 Associated disease CTRCT Phenotype details see paper; ..., 2m15d-bilateral symmetrical dense almost complete nuclear cataract not allowing fundus visibility, no ocular anomalies, no microcornea, no microphthalmia Diagnosis/Initial cataract Inheritance Isolated (sporadic) Diagnosis/Definite CTRCT2 Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 00y02m15d 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 2023-12-17 13:18:57 +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.