Phenotype #0000357767

Individual ID 00472972
Associated disease CMT
Phenotype details Febrile convulsions; Muscle weakness; Difficulty walking & climbing stairs; Facial weakness, mild; Muscle wasting; Hand tremor; Foot drop; Pes cavus; Abnormal gait; An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position) (based on HPO nomenclature). EMG-NCV: chronic demyelinating sensorimotor polyneuropathy
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 29y (29 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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