Global Variome shared LOVD

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

Phenotype #0000337703 Individual ID 00448528 Associated disease CMT4J Phenotype details Pes cavus HP:0001761 Lower limb muscle weakness HP:0007340 Areflexia HP:0001284 Distal upper limb amyotrophy HP:0007149 Upper limb muscle weakness HP:0003484 Gait disturbance HP:0001288 Demyelinating peripheral neuropathy HP:0007108 Sensorimotor neuropathy HP:0007141 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4J with parkinsonism Age/Examination - Age/Diagnosis - Age/Onset <10y Phenotype/Onset - Protein - Owner name Barbora Lauerova Database submission license Creative Commons Attribution 4.0 International Created by Barbora Lauerova Date created 2024-03-27 19:54:16 +01:00 (CET) Date last edited 2024-04-08 14:09:33 +02:00 (CEST)

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