Global Variome shared LOVD

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

Phenotype #0000351785 Individual ID 00466421 Associated disease MRD20 Phenotype details Seizure, Failure to thrive, Motor delay, Delayed speech and language development, EEG abnormality, Abnormal liver morphology Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-08-29 12:22:46 +02:00 (CEST) Date last edited 2025-08-29 19:42:17 +02:00 (CEST)

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