Global Variome shared LOVD

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Phenotype #0000296668 Individual ID 00404076 Associated disease CMT2 Phenotype details 20-y female with progressive weakness and wasting of both upper and lower limbs, stocking and glove hypesthesia, deep sensory loss, autonomic neuropathy and pes cavus. Her nerve conduction velocity study showed axonal neuropathy. She had a brother and two paternal uncles with similar condition. Diagnosis/Initial Autosomal recessive Hereditary sensorimotor neuropathy Inheritance Familial, autosomal recessive Diagnosis/Definite CMT-2 Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 12y 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 2022-02-25 22:47:29 +01:00 (CET) Date last edited 2022-03-03 11:39:24 +01:00 (CET)

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