Phenotype #0000223965

Individual ID	00296559
Associated disease	neuropathy
Diagnosis/Initial	neuropathy
Diagnosis/Definite	CMT2D;HMN5A
Phenotype details	upper limb weakness/wasting in small muscles of hands; lower limb pain and weakness in feet; nerve conduction study upper limb normal compound muscle action potential,mild/moderate slowing motor conduction velocity, normal sensory nerve action potential; nerve conduction study upper limb potentials absent motor conduction velocity, lower limit of normal sensory nerve action potential; needle EMG length-dependent denervation changes
Inheritance	Familial, autosomal dominant
Age/Examination	58y (58 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-08 10:45:22 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD