Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000296446 Individual ID 00403695 Associated disease CMT Phenotype details phenotype similar to brother; 12y-walks without support Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT2EE Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 04y Phenotype/Onset - Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-21 14:33:40 +01:00 (CET) Date last edited N/A

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