Global Variome shared LOVD

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Phenotype #0000347735 Individual ID 00460008 Associated disease ? Diagnosis/Initial neurodegenerative encephalomyelopathy Diagnosis/Definite MITCH Phenotype details see paper; ..., 14y-sensory ataxia; seizures; hearing loss; keratitis, corneal scarring; ichthyosiform rash; no intellectual disability, progression waxing and waning; MRI brain few scattered T2 hyperintensities in frontal lobes; axonal polyneuropathy Inheritance Unknown Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset sensory ataxia Protein - Tumor/MSI - Diagnosis/Criteria - 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 16:37:08 +01:00 (CET) Date last edited N/A

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