Phenotype #0000334619

Individual ID 00445382
Associated disease Danon;GSD2B
Phenotype details see paper; ..., full-time job as storekeeper; 13y-heart palpitations, ECG Wolf–Parkinson–White pattern; 18y-increased echogenicity, borderline increase antero-septal wall thickness; 25y-progressive visual impairment with increased severity dark hours, ERG revealed rods/cones dystrophy; no psychiatric/gastrointestinal/pulmonary complaints; 27y-pacemaker; 42y-atrial fibrillation
Diagnosis/Initial Danon disease
Inheritance Unknown
Diagnosis/Definite Danon disease
Age/Examination 42y (42 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2024-01-11 19:48:10 +01:00 (CET)
Date last edited N/A

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