Phenotype #0000223942

Individual ID 00296522
Associated disease neuropathy
Diagnosis/Initial neuropathy
Diagnosis/Definite CMT2D;HMN5A
Phenotype details severe muscle weakness, slightly more marked in lower limbs and distally; ventilator-dependent; needle EMG widespread and severe neurogenic changes; nerve conduction study severe reduction compound muscle action potential, slowing motor conduction velocity, normal sensory nerve action potential
Inheritance Unknown
Age/Examination 01y (1 year)
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 09:45:43 +02:00 (CEST)
Date last edited N/A

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