Global Variome shared LOVD

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Phenotype #0000292578 Individual ID 00399473 Associated disease CMTX1 Phenotype details see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315) Diagnosis/Initial CMT1X Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset 50y Phenotype/Onset - Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-20 20:35:15 +01:00 (CET) Date last edited 2022-01-24 11:48:37 +01:00 (CET)

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