Global Variome shared LOVD

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Phenotype #0000347734 Individual ID 00460007 Associated disease MITCH Diagnosis/Initial Mitchell syndrome Diagnosis/Definite MITCH Phenotype details see paper; ..., 7y-diffuse desquamatory rash, gait instability, ptosis with photophobia, hearing loss, abdominal pain, diarrhea, nausea, dysuria Inheritance Isolated (sporadic) Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - 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 16:27:48 +01:00 (CET) Date last edited N/A

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