Global Variome shared LOVD

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

Phenotype #0000354689 Individual ID 00469536 Associated disease NDD Diagnosis/Initial complex NDD Diagnosis/Definite MRXHF1 Phenotype details HP:0001508, HP:0011968, HP:0001290, HP:0000252, HP:0000158, HP:0001263, HP:0001332, HP:0002027, HP:0000286, HP:0000431, HP:0005301 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 2025-11-16 16:34:43 +01:00 (CET) Date last edited 2025-11-19 08:59:23 +01:00 (CET)

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