Global Variome shared LOVD

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Phenotype #0000231991 Individual ID 00306146 Associated disease ECHS1D Phenotype details 6M-regression 2Y metabolic decompensation with lactic acidosis and ketosis MRI-Leigh's disease milder clinical course than his brothers 14Y decreased vision and intermittent nystagmus,wheelchair bound slurred speech and drooling joint contractures Diagnosis/Initial Mitochondrial Disease Inheritance Familial, autosomal recessive Diagnosis/Definite ECHS1 disease Age/Examination 16y (16 years) Age/Diagnosis 14y Age/Onset 00y06m Phenotype/Onset - Protein - Owner name Mariella Simon Database submission license No license selected Created by Mariella Simon Date created 2020-07-08 23:29:31 +02:00 (CEST) Date last edited 2020-07-09 14:04:17 +02:00 (CEST)

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