Phenotype #0000296466

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00403769
Associated disease	CMT2
Phenotype details	12-year boy with progressive weakness and wasting of both upper and lower limbs, sensor loss of hands and feet and bilateral pes cavus.
Diagnosis/Initial	Autosomal recessive Hereditary sensorimotor neuropathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT-2
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	06y
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-22 02:10:01 +01:00 (CET)
Date last edited	2022-03-02 07:24:04 +01:00 (CET)

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