Phenotype #0000223930

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00296524
Associated disease	neuropathy
Diagnosis/Initial	neuropathy
Diagnosis/Definite	CMT2D;HMN5A
Phenotype details	eeakness in fingers, brisk deep tendon reflexes in upper limbs/knee; wasting in feet, asymmetric foot deformity, tiptoeing in childhood
Inheritance	Familial, autosomal dominant
Age/Examination	49y (49 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-08 09:29:01 +02:00 (CEST)
Date last edited	N/A

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