Phenotype #0000228494
| Individual ID |
00301226 |
| Associated disease |
neuropathy |
| Diagnosis/Initial |
CMT intermediate |
| Diagnosis/Definite |
- |
| Phenotype details |
moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
23y (23 years) |
| Age/Onset |
12y |
| Phenotype/Onset |
walking and running difficulties |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-05-10 11:49:06 +02:00 (CEST) |
| Date last edited |
N/A |
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