Global Variome shared LOVD

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

Phenotype #0000351420 Individual ID 00466036 Associated disease NDD Diagnosis/Initial NDD Diagnosis/Definite MRD56 Phenotype details HP:0010864, HP:0002342, HP:0100704, HP:0001250, HP:0002384, HP:0001252, HP:0000286, HP:0000582, HP:0001357, HP:0000545 Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Marketa Wayhelova Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marketa Wayhelova Date created 2025-07-10 07:53:55 +02:00 (CEST) Date last edited 2025-08-01 14:13:44 +02:00 (CEST)

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