Global Variome shared LOVD

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

Phenotype #0000355176 Individual ID 00470031 Associated disease SPG Phenotype details see paper; ..., non-syndromic, bilateral anterior cataract Diagnosis/Initial bilateral anterior cataract Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y8m (14 years, 8 months) Age/Diagnosis - Age/Onset 1d 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 2025-11-25 19:19:02 +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.