Phenotype #0000232759

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306939
Associated disease	CMT
Phenotype details	OFC <third percentile; motor delay; no speech delay; no intellectual disability; hypotonia, weakness, areflexia; sensory motor neuropathy; MRI brain “mild dismaturative features”
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CMT2Z
Age/Examination	01y07m (1 year, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-24 12:28:37 +02:00 (CEST)
Date last edited	N/A

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