Phenotype #0000166800

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00218357
Associated disease	CMT
Phenotype details	see paper; mild and quiescent lower-limb axonal sensorimotor neuropathy; MRI lower-limb musculature shows fatty atrophy, ...
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT-2P
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-01-23 20:32:27 +01:00 (CET)
Date last edited	N/A

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