Phenotype #0000292673

Individual ID 00399569
Associated disease CMTX1
Phenotype details see paper; ..., muscle weakness (HP:0001324); distal lower limb amyotrophy (HP:0008944); reduced tendon reflexes (HP:0001315); pes cavus (HP:0001761); steppage gait (HP:0003376); areflexia (HP:0001284); split hand HP:0001171; mixed demyelinating and axonal polyneuropathy (HP:0007327)
Diagnosis/Initial CMT1X
Inheritance Familial, X-linked dominant
Diagnosis/Definite -
Age/Examination 33y-46y
Age/Diagnosis -
Age/Onset 16y
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 2022-01-21 21:30:54 +01:00 (CET)
Date last edited 2022-01-24 11:41:42 +01:00 (CET)

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