Global Variome shared LOVD

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Phenotype #0000307871 Individual ID 00416105 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 20m-died sepsis; birth full term; delayed motor development; delayed cognitive development; 4m-spasticity; truncal hypotonia; 4m-seizures; no stroke like episodes; feeding difficulties; myocarditis; 1y-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; white matter cystic changes; basal ganglia involvement; thinning corpus callosum; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 1y8m (1 year, 8 months) Age/Diagnosis - Age/Onset 4m 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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