Phenotype #0000358319

Individual ID 00473524
Associated disease CMT
Phenotype details onset:6y with difficulty walking and Foot drop; Difficulty running & climbing stairs; Upper limb muscle weakness; Distal muscle weakness & wasting, legs>arms; Tremor in hands; Claw finger; Pes cavus, bilateral, mild; Abnormality of the ankles, bilateral; Abnormal gait; Sural nerve biopsy: peripheral neuropathy, chronic demyelinating and remyelinating with mild hypertrophic component.
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 22y (22 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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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