Global Variome shared LOVD

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Phenotype #0000357839 Individual ID 00473044 Associated disease ? Diagnosis/Initial muscle hypertonia, developemental delay Diagnosis/Definite - Phenotype details 8y old, neurodevelopmental delay, hemiparesis, increased muscle tone , EDX report? Normal EEG and history of therapeutic abortion in mother (microcephaly and heart abnormality in the fetus). Inheritance Unknown Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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