Global Variome shared LOVD

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Phenotype #0000346480 Individual ID 00458031 Associated disease ? Diagnosis/Initial Leigh syndrome Diagnosis/Definite MMDS9B Phenotype details see paper; ..., 11m-deceased; no hearing impairment; optic atrophy; myopathy; developmental delay, seizures, nystagmus; MRI brain basal ganglia lesions, bilateral optic atrophy; infection related deterioration; anemia, raised CSF lactate, respiratory insufficiency Inheritance Familial, autosomal recessive Age/Examination 11m Age/Diagnosis - Age/Onset 7m 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 2024-11-25 22:17:59 +01:00 (CET) Date last edited N/A

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