Global Variome shared LOVD

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Phenotype #0000307853 Individual ID 00416087 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; regression in development; 10y-ataxia; 19y-tremor; no truncal hypotonia; 9y-seizures, tonic-clonic; 13y-stroke like episodes; no respiratory distress/insufficiency; no feeding difficulties; no dysmorphic features; MRI brain 9y-13y no cerebral atrophy (visual inspection); stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; parieto-occipital; cavernoma left parietal lobe; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 9y 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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