Global Variome shared LOVD

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Phenotype #0000335945 Individual ID 00446741 Associated disease VRJS Phenotype details Neurodevelopmental delay, Delayed speech and language development, Poor fine motor coordination, Seizure, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Renal duplication, Abnormal finger phalanx morphology Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-01-23 15:08:40 +01:00 (CET) Date last edited 2024-01-25 09:28:30 +01:00 (CET)

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