Phenotype #0000051907
| Individual ID |
00072202 |
| Associated disease |
? |
| Diagnosis/Initial |
myopathy |
| Diagnosis/Definite |
myopathy, myofibrillar, type 1 (MFM-1) |
| Phenotype details |
Repolarization abnormality (ECG) (HP:0011675), Epsilon wave (ECG) (HP:0011675), Right bundle branch block (HP:0011712), ventricular tachycardia (HP:0004756), diastolic dysfunction (HP:0011025), implantable cardioverter-defibrillator |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
- |
| Age/Diagnosis |
14y |
| Age/Onset |
<14y |
| Phenotype/Onset |
Repolarization abnormality (ECG) (HP:0011675), Epsilon wave (ECG) (HP:0011675), Right bundle branch block (HP:0011712) |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Pieter Klap |
| Database submission license |
No license selected |
| Created by |
Pieter Klap |
| Date created |
2016-05-31 13:09:41 +02:00 (CEST) |
| Date last edited |
2017-09-08 13:02:04 +02:00 (CEST) |
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