Global Variome shared LOVD

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

Phenotype #0000355395 Individual ID 00231336 Associated disease DD Phenotype details see paper; ... Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite MRD21 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Christiane Zweier Database submission license No license selected Created by Johan den Dunnen Date created 2025-11-29 14:37:59 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.