Global Variome shared LOVD

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Phenotype #0000292669 Individual ID 00399563 Associated disease CMTX1 Phenotype details see paper; ..., steppage gait (HP:0003376); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); distal amyotrophy (HP:0003693); areflexia (HP:0001284); clubbing of fingers (HP:0100759); soft tissue swelling of interphalangeal joints (HP:0006162); mixed demyelinating and axonal polyneuropathy (HP:0007327); decreased compound muscle action potential amplitude (HP:0033383) Diagnosis/Initial CMT1X Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 16y 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 19:30:47 +01:00 (CET) Date last edited 2022-01-24 11:45:30 +01:00 (CET)

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