Phenotype #0000358104

Individual ID 00473309
Associated disease CMT
Phenotype details Foot drop, bilateral; Distal lower & upper muscle weakness due to neuropathy; Mild claw hand; Abnormal gait; Gowers sign; Decreased DTR; EMG-NCV: Peripheral neurogenic process in lower limbs (sensorimotor, mainly axonal and symmetrical) with possibility of HMSN.
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 5y (5 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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