Phenotype #0000243126

Individual ID	00324617
Associated disease	CMT
Phenotype details	first signs lower limbs before upper limbs, pain and lower limbs weakness; weakness distal, lower limbs, no sensory loss distal,, reflex lost distal, lower limbs and upper limbs; 40y-walk with stick, 42y-wheelchair bound ; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 44.5m/s
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT2N
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	26y
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