Global Variome shared LOVD

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

Phenotype #0000352724 Individual ID 00467516 Associated disease MRT53;GPIBD13 Diagnosis/Initial Peripheral nerve hyperexcitability Diagnosis/Definite - Phenotype details Myokymia (HP:0002411), Gait ataxia (HP:0002066), Peripheral nerve hyperexcitability (HP:0034351), Demyelinating motor neuropathy (HP:0007220), Muscle hypertrophy of the lower extremities (HP:0008968), EMG: myokymic discharges (HP:0100288), Febrile seizure (HP:0002373) Inheritance Familial, autosomal recessive Age/Examination 20y (20 years) Age/Diagnosis 27y Age/Onset 08y Phenotype/Onset Myokymia (HP:0002411) Protein - Owner name Pedro Henrique Marte de Arruda Sampaio Database submission license No license selected Created by Pedro Henrique Marte de Arruda Sampaio Date created 2025-10-14 19:50:21 +02:00 (CEST) Date last edited 2025-10-15 09:28:47 +02:00 (CEST)

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