Phenotype #0000292581

Individual ID 00399476
Associated disease CMTX1
Phenotype details see paper;…, distal lower limb muscle weakness (HP:0009053); steppage gait (HP:0003376); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); peripheral neuropathy (HP:0009830);
mixed demyelinating and axonal polyneuropathy (HP:0007327)
Diagnosis/Initial CMT1X
Inheritance Familial, X-linked dominant
Diagnosis/Definite -
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset 06y
Phenotype/Onset gait disturbance (HP:0001288)
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 21:54:03 +01:00 (CET)
Date last edited 2022-01-24 11:46:53 +01:00 (CET)

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