Global Variome shared LOVD

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Phenotype #0000347738 Individual ID 00460013 Associated disease MITCH Diagnosis/Initial - Diagnosis/Definite MITCH Phenotype details see paper; ..., diffused erythroderma with whitish fine scales, hyperkeratosis plaques with brown coarse scales, pruritus; no alopecia; hearing loss; reduced visual acuity; ataxia; polyneuropathy; normal to impaired cognition; no gastrointestinal symptoms; no dysuria; normal white matter demyelination Inheritance Isolated (sporadic) Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - 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 17:07:21 +01:00 (CET) Date last edited N/A

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