Phenotype #0000291696

Individual ID 00398575
Associated disease CMTX1
Phenotype details see paper; Gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484),
Upper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Reduced tendon reflexes (HP:0001315), Distal sensory impairment (HP:0002936)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, X-linked recessive
Diagnosis/Definite CMTX1
Age/Examination 49y (49 years)
Age/Diagnosis -
Age/Onset 10y-20y
Phenotype/Onset Lower limb muscle weakness (HP:0007340)
Protein -
Owner name Farina Kemper
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Farina Kemper
Date created 2022-01-06 20:49:50 +01:00 (CET)
Date last edited 2022-01-18 17:00:38 +01:00 (CET)

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