Global Variome shared LOVD

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

Phenotype #0000326525 Individual ID 00436346 Associated disease CMT4J Phenotype details Gait disturbance HP:0001288 Impaired tactile sensation HP:0010830 Lower limb muscle weakness HP:0007340 Lower limb amyotrophy HP:0007210 Upper limb muscle weakness HP:0003484 Demyelinating peripheral neuropathy HP:0007108 Sensorimotor neuropathy HP:0007141 Parkinsonism HP:0001300 Foot deformity HP:0001760 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4J with parkinsonism Age/Examination 70y (70 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Barbora Lauerova Database submission license Creative Commons Attribution 4.0 International Created by Barbora Lauerova Date created 2023-09-03 21:25:08 +02:00 (CEST) Date last edited 2023-10-04 10:13:19 +02:00 (CEST)

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