Phenotype #0000243124

Individual ID	00324615
Associated disease	CMT
Phenotype details	first signs repeated ankle sprains; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 50m/s
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT2N
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	45y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-20 15:38:25 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD