| Individual ID |
00445138 |
| Associated disease |
MPXPS |
| Phenotype details |
Proximal muscle weakness (HP:0003701) Myalgia (HP:0003326) Scapular winging (HP:0003691) Abnormal lumbar spine morphology (HP:0100712) Waddling gait HP:0002515 |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Myopathy with extrapyramidal signs |
| Age/Examination |
23y (23 years) |
| Age/Diagnosis |
23y |
| Age/Onset |
13y |
| Phenotype/Onset |
- |
| MotorSkills |
- |
| Protein |
- |
| Owner name |
Gautham Arunachal |
| Database submission license |
No license selected |
| Created by |
Gautham Arunachal |
| Date created |
2024-01-04 11:24:33 +01:00 (CET) |
| Date last edited |
2024-01-04 13:27:25 +01:00 (CET) |