Global Variome shared LOVD

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

Phenotype #0000326526 Individual ID 00436347 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 50y (50 years) 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 2023-09-03 21:55:16 +02:00 (CEST) Date last edited 2023-10-04 10:13:38 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.