Phenotype #0000243123

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00324614
Associated disease	CMT
Phenotype details	first signs lower limbs before upper limbs, foot deformation; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 40.8m/s
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT2N
Age/Examination	47y (47 years)
Age/Diagnosis	-
Age/Onset	45y
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.