Global Variome shared LOVD

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Phenotype #0000292676 Individual ID 00399571 Associated disease CMTX1 Phenotype details see paper; ..., muscle weakness (HP:0001324); distal amyotrophy (HP:0003693); reduced tendon reflexes (HP:0001315); pes cavus (HP:0001761) Diagnosis/Initial CMT1X Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination 72y (72 years) Age/Diagnosis - Age/Onset 30y Phenotype/Onset gait disturbance (HP:0001288) Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-21 22:19:44 +01:00 (CET) Date last edited 2022-01-24 11:40:17 +01:00 (CET)

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