Global Variome shared LOVD

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Phenotype #0000351391 Individual ID 00466006 Associated disease LS Inheritance Familial, autosomal recessive Diagnosis/Initial Leigh syndrome Age/Examination 27y (27 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset fever unknwn origin Phenotype details see paper; ..., fever unknown origin; sub-acute onset cognitive-motor slowing, lethargy, hyperphagia, difficulty in ambulation, oculomotor alterations (mild convergent strabismus left eye with mild abduction deficit, vertical nystagmus primary position, horizontal nystagmus in bilateral gaze settings, complete deficit ocular pursuit movements vertical plane); MRI-brain intra-axial lesions midbrain, tegmentum, and tectal plate, with extension along medial longitudinal fasciculus, with modest mass effect, linear enhancement, increased perfusion indices; lactic acid peak on spectroscopy Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-07-06 15:31:07 +02:00 (CEST) Date last edited N/A

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