Phenotype #0000357494

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00472697
Associated disease	CMT
Phenotype details	see paper; ..., early-onset Charcot-Marie-Tooth; nystagmus; tremor; deformed feet (resembling clubfoot; clumsy movements; 20m-walk; decreased nerve conduction velocities; 8y-no response from sensory median nerve; MRI brain normal
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-02-25 17:30:35 +01:00 (CET)
Date last edited	N/A

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