Global Variome shared LOVD

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Phenotype #0000348562 Individual ID 00460883 Associated disease MCLDS Phenotype details see paper; ..., acanthocytosis, family investigation Diagnosis/Initial family investigation Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 45y (45 years) Age/Diagnosis - Age/Onset 45y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-30 10:12:45 +01:00 (CET) Date last edited N/A

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