Global Variome shared LOVD

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

Phenotype #0000326472 Individual ID 00436292 Associated disease CMT4J Phenotype details Gait disturbance HP:0001288 Achilles tendon contracture HP:0001771 Pes cavus HP:0001761 Lower limb amyotrophy HP:0007210 Lower limb muscle weakness HP:0007340 Areflexia HP:0001284 Impaired tactile sensation HP:0010830 Distal upper limb amyotrophy HP:0007149 Upper limb muscle weakness HP:0003484 Demyelinating peripheral neuropathy HP:0007108 Sensorimotor neuropathy HP:0007141 Parkinsonism HP:0001300 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4J with parkinsonism Age/Examination 60y (60 years) Age/Diagnosis - Age/Onset 10y-20y Phenotype/Onset Gait disturbance HP:0001288, Achilles tendon contracture HP:0001771 Protein - Owner name Barbora Lauerova Database submission license Creative Commons Attribution 4.0 International Created by Barbora Lauerova Date created 2023-08-31 22:16:55 +02:00 (CEST) Date last edited 2023-09-01 10:24:57 +02:00 (CEST)

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