Phenotype #0000223932

Individual ID	00296525
Associated disease	neuropathy
Diagnosis/Initial	neuropathy
Diagnosis/Definite	CMT2D;HMN5A
Phenotype details	numbness in both hands; foot drop, wasting of tibialis anterior, weakness foot dorsiflexion; nerve conduction study prolonged distal motor latency, prolonged F waves, small motor responses common peroneal and posterior tibial nerves, mildly reduced conduction velocities common peroneal nerve, low normal or slightly small sensory nerve action potential
Inheritance	Familial, autosomal dominant
Age/Examination	52y (52 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-08 09:35:52 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD