Global Variome shared LOVD

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Phenotype #0000346139 Individual ID 00457680 Associated disease CMT Phenotype details see paper; ..., infantile axonal Charcot-Marie-Tooth disease; delayed motor development, slowly-progressing distal muscle weakness with areflexia, foot deformities Diagnosis/Initial infantile axonal Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - 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 2024-11-16 09:19:55 +01:00 (CET) Date last edited N/A

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