Global Variome shared LOVD

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Phenotype #0000318999 Individual ID 00428052 Associated disease ? Diagnosis/Initial Leigh syndrome Diagnosis/Definite MC1DN31 Phenotype details 20m-died; normal pregnancy, delivery, birth parameters; 6m-muscular hypotonia, delayed motor milestones, nystagmus, EEG evoked visual potentials; acute episode with abnormal eye movements, myoclonus, loss of consciousness, followed by cerebellar syndrome; CT scan hypersignal basal ganglia; mildly elevated blood lactate levels; NMR brain imaging normal; 1y-profound hypotonia, cerebellar syndrome, severe dysmetria, delayed mental development, peripheral neuropathy Inheritance Familial, autosomal recessive Age/Examination 01y08m (1 year, 8 months) 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 2022-12-20 09:10:27 +01:00 (CET) Date last edited 2022-12-20 09:44:15 +01:00 (CET)

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