Phenotype #0000345927

Individual ID 00457463
Associated disease CMT
Phenotype details see paper; ..., 6y-distal limb weakness, gait disability; 15y-uses walker; 23y-operation bilateral feet due to walking difficulties; 37y-muscle weakness, atrophies of bilateral distal muscles upper/lower limbs, loss of sensory/tendon reflexes
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-11-13 09:51:54 +01:00 (CET)
Date last edited N/A

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