Phenotype #0000358007

Individual ID 00473212
Associated disease CMT
Phenotype details onset 10y; Distal muscle weakness, distal>proximal, upper>lower; Sensory impairment, distal; Pes cavus; Intrinsic hand muscle atrophy; Seizure (since 2y old); Finger joint contracture; EMG-NCV: Sensorimotor, Peripheral neuropathy, mainly demyelinating type (R/O CMT); Abnormal EEG.
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 18y (18 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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