Phenotype #0000297459

Individual ID	00404900
Associated disease	CMT
Phenotype details	see paper; ..., distal intermediate neuropathy, scapular winging; 16y-progressive lower limb weakness, altered gait, atrophy of limbs (distal more than proximal), pes cavus, hammer toes; 17y-difficulties in running and walking fast, pressure-induced sensory symptoms extremities
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMTRIC
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	progressive lower limb weakness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-10 16:12:31 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD