Global Variome shared LOVD

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Phenotype #0000217188 Individual ID 00285110 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 3y-deceased; hypotonia, global developmental delay, strabismus, ophthalmoplegia, dystonia, elevated plasma alanine and CSF lactate; increased mtDNA levels in muscle and abnormal brainstem auditory-evoked potential Inheritance Familial, autosomal recessive Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Julia Lopez Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2020-02-05 13:36:16 +01:00 (CET) Date last edited 2020-12-14 09:17:47 +01:00 (CET)

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