Phenotype #0000243122

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00324613
Associated disease	CMT
Phenotype details	first signs lower limbs before upper limbs, mild distal lower limbs amyotrophy; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 45.7m/s
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT2N
Age/Examination	54y (54 years)
Age/Diagnosis	-
Age/Onset	54y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-20 15:38:25 +01:00 (CET)
Date last edited	N/A

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