Phenotype #0000297468

Individual ID	00404910
Associated disease	CMT
Phenotype details	mild sensory loss distal LL; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no clinical cortical involvement; moderately reduced motor nerve conduction velocity, preserved sensory nerve action potential; EMG chronic process with active denervation; MRI brain white matter changes; MRI lower limb moderate fatty infiltration
Diagnosis/Initial	predominant motor neuropathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMTRIC
Age/Examination	-
Age/Diagnosis	-
Age/Onset	19y
Phenotype/Onset	proximal upper limb weakness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-10 18:10:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD