| Individual ID |
00205475 |
| Associated disease |
RBM |
| Diagnosis/Initial |
reducing body myopathy (RBM) |
| Diagnosis/Definite |
RBMX-1 |
| Phenotype details |
11y ventilatory support; 18y dilated cardiomyopathy; reduced fractional shortening; 8y-lost ability to walk (HP:0006957) |
| Inheritance |
Familial |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
5y |
| Phenotype/Onset |
progressive weakness |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2009-09-11 20:47:21 +02:00 (CEST) |
| Date last edited |
2012-03-04 15:57:33 +01:00 (CET) |