Global Variome shared LOVD

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Phenotype #0000307849 Individual ID 00416083 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 4y-died; infancy spasticity; tetraparesis/paraparesis; infancy seizures; encephalopathy; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1d Phenotype/Onset seizures Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-22 19:29:13 +02:00 (CEST) Date last edited N/A

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