Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000350346 Individual ID 00464284 Associated disease CMTX1 Phenotype details Sensorimotor neuropathy, Distal sensory impairment, educed motor nerve conduction velocity, positive family history of HSMN (brother and mother, carriers of the same variant p.Arg181Ala) Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination 60y (60 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-02-27 15:59:32 +01:00 (CET) Date last edited 2025-02-28 11:43:43 +01:00 (CET)

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