Phenotype #0000053388
| Individual ID |
00073654 |
| Associated disease |
? |
| Diagnosis/Initial |
proximodistal myopathy |
| Diagnosis/Definite |
- |
| Phenotype details |
Difficulty walking (HP:0002355), inability to walk on tip-toes (HP:0004302), Difficulty running (HP:0009046), Difficulty climbing stairs (HP:0003551), Elevated serum creatine phosphokinase (HP:0003236) |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
29y (29 years) |
| Age/Diagnosis |
- |
| Age/Onset |
27y |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Pieter Klap |
| Database submission license |
No license selected |
| Created by |
Pieter Klap |
| Date created |
2016-06-15 13:18:33 +02:00 (CEST) |
| Date last edited |
2017-09-08 13:02:04 +02:00 (CEST) |
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