Phenotype #0000092759
| Individual ID |
00043929 |
| Associated disease |
BMD |
| Phenotype details |
scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 880; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) |
| Diagnosis/Initial |
dystrophy, muscular, Becker type (BMD) |
| Inheritance |
Familial |
| Diagnosis/Definite |
dystrophy, muscular, Becker type (BMD) |
| Age/Examination |
40y (40 years) |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Age/Diagnosis |
7y |
| Protein |
- |
| Owner name |
Manuel F. Mas Rodriguez |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2015-05-12 16:00:54 +02:00 (CEST) |
| Date last edited |
N/A |
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