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 InternationalCreative Commons License
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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