Global Variome shared LOVD

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Phenotype #0000347736 Individual ID 00460010 Associated disease NDD Diagnosis/Initial progressive hearing loss Diagnosis/Definite MITCH Phenotype details see paper; ..., 16y-deceased; 4y-progressive hearing loss; spinal MRI extensive myelitis longitudinal extensive intramedullary T2 lesion entire myelon, centrally located with swelling spinal cord; MRI-brain 5y-normal; polyneuropathy; 9y-subacute ataxia; speech delay; seizures; sensorineural hearing loss; subepithelial clouding, subepithelial chalk deposition, corneal degeneration, amaurosis; dry/scaling skin, ichthyosis; anti-MOG-antibody-associated myelitis Inheritance Isolated (sporadic) Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 04y Phenotype/Onset progressive hearing loss 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 16:52:10 +01:00 (CET) Date last edited N/A

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