Global Variome shared LOVD

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Phenotype #0000228823 Individual ID 00301725 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details spastic diplegia, cognitive impairment, deafness and episodes of encephalopathy. Brain MRI revealed progressive and extensive abnormal signal involving the deep gray matter structures including the hypothalami, medial aspect of the thalami, basal ganglia and substantia nigra in a symmetric fashion most consistent with Leigh disease. Diffusion restriction in the midbrain lesions suggestive of acute disease. Lactic acid in blood fluctuated between high and high normal. There is positive family history of a similarly affected sister. Inheritance Familial, autosomal recessive Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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