Phenotype #0000275292

Individual ID 00381441
Associated disease DMD
Phenotype details scoliosis, 13y-scoliosis surgery; 10y-loss of ambulation; respiratory discomfort, 16y-mechanical ventilation; no dilated cardiomyopathy
Diagnosis/Initial DMD
Inheritance Familial, X-linked recessive
Diagnosis/Definite -
Age/Examination 18y (18 years)
Age/Onset 3y
Phenotype/Onset -
Age/Diagnosis 5y
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 2021-08-27 16:41:15 +02:00 (CEST)
Date last edited N/A

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