Phenotype #0000297463

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00404904
Associated disease	CMT
Phenotype details	see paper; ..., distal weakness, distal muscle atrophy, no involvement of proximal muscles, pes cavus, hammer toes, abnormal walking without help, distal sensory loss, no spine deformity, deep tendon areflexia
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMTRIC
Age/Examination	43y (43 years)
Age/Diagnosis	-
Age/Onset	28y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-10 16:54:08 +01:00 (CET)
Date last edited	N/A

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