Global Variome shared LOVD

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Phenotype #0000296466 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 Creative Commons Attribution-ShareAlike 4.0 International 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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