Phenotype #0000227491

Individual ID 00078919
Associated disease CMT2
Phenotype details see paper; ..., predominant axonal neuropathy, normal motor nerve conduction velocity median nerve; positive family history; 48y-weakness lower extremities; reflexes normal in upper extremities, decreased knee, absent ankle, pes cavus/varus
Diagnosis/Initial Charcot-Marie-Tooth disease, type 2
Inheritance Familial, autosomal dominant
Diagnosis/Definite CMT2A2
Age/Examination 58y (58 years)
Age/Diagnosis -
Age/Onset 48y
Phenotype/Onset weakness lower extremities
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 2020-04-23 09:53:40 +02:00 (CEST)
Date last edited N/A

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