Global Variome shared LOVD

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Phenotype #0000347740 Individual ID 00460014 Associated disease MITCH Diagnosis/Initial - Diagnosis/Definite MITCH Phenotype details see paper; ..., erythema, hyperkeratosis with gray-to-brown scales, fissures, follicular papules, pruritus; no alopecia; hearing loss; allergic conjunctivitis; ataxia; polyneuropathy; normal to impaired cognition; seizures; no gastrointestinal symptoms; no dysuria Inheritance Isolated (sporadic) Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset 00y00m40d 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 17:12:05 +01:00 (CET) Date last edited N/A

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