Phenotype #0000357608

Individual ID 00472813
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., mild learning issues; mild behavioural issues; muscle pain, muscle weakness, normal neuromuscular exam, EMG normal; mild left ventricular dilatation, normal systolic function; normal CK level 80 U/L
Inheritance Unknown
Age/Examination 40y-49y
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-03-01 15:10:35 +01:00 (CET)
Date last edited N/A

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