Global Variome shared LOVD

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Phenotype #0000187790 Individual ID 00248822 Associated disease MMDS Diagnosis/Initial multiple mitochondrial dysfunctions syndrome Diagnosis/Definite MMDS5 Phenotype details see paper; ..., early onset neurological deterioration, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis, early demise Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-28 12:54:33 +02:00 (CEST) Date last edited 2024-11-25 10:05:46 +01:00 (CET)

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