Phenotype #0000232749
| Individual ID |
00306926 |
| Associated disease |
CMT |
| Phenotype details |
see paper; ..., weakness; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; intellectual disability (IQ47) |
| Diagnosis/Initial |
Charcot-Marie-Tooth disease |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
CMT2Z |
| Age/Examination |
51y (51 years) |
| Age/Diagnosis |
- |
| Age/Onset |
6y |
| Phenotype/Onset |
weakness |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-07-24 09:59:44 +02:00 (CEST) |
| Date last edited |
N/A |
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