Global Variome shared LOVD

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Phenotype #0000292670 Individual ID 00399564 Associated disease CMTX1 Phenotype details see paper; ..., distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); gait disturbance (HP:0001288); distal amyotrophy (HP:0003693) Diagnosis/Initial CMT1X Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset 15y Phenotype/Onset distal lower limb muscle weakness (HP:0009053) Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-21 19:48:23 +01:00 (CET) Date last edited 2022-01-24 11:46:02 +01:00 (CET)

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