Global Variome shared LOVD

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

Phenotype #0000358682 Individual ID 00473887 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details onset 15y with feet weakness and difficulty walking; Muscle weakness, legs>arms, proximal>distal; Mild wasting in proximal of legs; Mild ataxia; Hands tremor; Abnormal gait; Genu valgum; Difficulty walking, running and climbing steps; Prominent calves; EMG-NCV: motor neuron disease. Elevated level of CPK. Inheritance Unknown Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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