Phenotype #0000223963
| Individual ID |
00296557 |
| Associated disease |
neuropathy |
| Diagnosis/Initial |
neuropathy |
| Diagnosis/Definite |
CMT2D;HMN5A |
| Phenotype details |
no upper limb weakness; lower limb pes cavus, tight Achilles tendon; chronic denervation in legs |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
16y (16 years) |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-04-08 10:31:42 +02:00 (CEST) |
| Date last edited |
N/A |
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