Phenotype #0000223955

Individual ID 00296547
Associated disease neuropathy
Diagnosis/Initial neuropathy
Diagnosis/Definite CMT2D;HMN5A
Phenotype details typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties; upper limbs dorsal interosseous muscle atrophy, weak thumb/index finger; lower limbs ankle dorsi and plantar flexion weakness
Inheritance Familial, autosomal dominant
Age/Examination 34y (34 years)
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 2020-04-08 09:57:33 +02:00 (CEST)
Date last edited 2020-04-08 10:01:30 +02:00 (CEST)

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