Phenotype #0000358679

Individual ID	00473884
Associated disease	CMT
Phenotype details	onset 12y with neuropathy of hands; Abnormal posture of hands; Thenar & hypothenar atrophy; Mild wasting of lower limbs; Distal upper/lower limbs muscle weakness due to peripheral neuropathy; EMG-NCV: Chronic motor neuropathy involving of distal muscle of upper and lower extremities, R/O distal SMA.
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD