Phenotype #0000357947

Individual ID 00473152
Associated disease CMT
Phenotype details onset 6y, Hearing loss, from 10y ago; Difficulty walking; Abnormal gait; Footdrop; Hands & feet deformity; Upper & lower limbs weakness & atrophy due to neuropathy; Decreased muscle force; EMG-NCV: suggestive of CMT1 & Hereditary motor sensory neuropathy.
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 25y (25 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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