Phenotype #0000166803

Individual ID	00218361
Associated disease	CMT
Phenotype details	see paper; difficulty walking, slowly progressive weakness lower limbs, atrophy distal parts lower limbs (III1), tendon reflexes depressed or absent, with mild stocking sensory loss to pricking pain or vibration feet, talipes cavus deformity (II4), no clawhand deformity, numbness and tingling in feet, no cranial nerve involvement, no cerebellar or pyramidal signs, ...
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT-2P
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	difficulty walking
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-01-24 08:39:25 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD