Phenotype #0000347730
| Individual ID |
00460003 |
| Associated disease |
neuropathy |
| Diagnosis/Initial |
neuropathy |
| Diagnosis/Definite |
MITCH |
| Phenotype details |
see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; decreased cognition; ataxia; ongoing and chronic axon loss |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
9y (9 years) |
| Age/Onset |
3y |
| 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 |
2025-01-15 15:54:29 +01:00 (CET) |
| Date last edited |
N/A |
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