Phenotype #0000296572

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00403899
Associated disease	CMT4C
Phenotype details	Progressive weakness and wasting of the four limbs. Bilateral foot drop. Nerve conduction velocity study showed severe demyelinating peripheral neuropathy
Diagnosis/Initial	Autosomal recessive Hereditary sensorimotor neuropathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT-4C
Age/Examination	28y (28 years)
Age/Diagnosis	24y
Age/Onset	06y
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-24 20:38:32 +01:00 (CET)
Date last edited	2022-02-25 08:54:42 +01:00 (CET)

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