Global Variome shared LOVD

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

Phenotype #0000344755 Individual ID 00456236 Associated disease ? Diagnosis/Initial lysosomal storage disorder Diagnosis/Definite TSD Phenotype details see paper; ... (detailed) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 12m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-24 08:52:57 +02:00 (CEST) Date last edited N/A

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