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 |