Global Variome shared LOVD

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Phenotype #0000347729 Individual ID 00460002 Associated disease neuropathy Diagnosis/Initial neuropathy Diagnosis/Definite MITCH Phenotype details see paper; ..., 15y-coma; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; ongoing and chronic axon loss Inheritance Isolated (sporadic) Age/Examination 15y (15 years) Age/Onset 9y 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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