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
Created by	Johan den Dunnen
Date created	2025-07-06 15:31:07 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD