Phenotype #0000357740

Individual ID 00472945
Associated disease CMT
Phenotype details Decreased DTR (~0); Wasting of lower limbs; Claw toes, mild; onset 2y ago with bilateral foot drop; Abnormal gait; PMP22 MLPA:no del/dup; CPK:732; High urine random protein; High level of gamma serum protein EP; Serum kappa light chain (↑), Serum lambda light chain total (↑); EMG-NCV:motor sensory neuropathy, chronic demyelinising, CMT should be noted
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 14y (14 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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