Phenotype #0000292579

Individual ID 00399474
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); gait disturbance (HP:0001288)
Diagnosis/Initial CMT1X
Inheritance Familial, X-linked dominant
Diagnosis/Definite -
Age/Examination 60y (60 years)
Age/Diagnosis -
Age/Onset 30y
Phenotype/Onset -
Protein -
Owner name Maeve Soen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Maeve Soen
Date created 2022-01-20 20:45:50 +01:00 (CET)
Date last edited 2022-01-24 11:49:04 +01:00 (CET)

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