Global Variome shared LOVD

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Phenotype #0000307872 Individual ID 00416106 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 5m-died metabolic crisis; birth full term; hypotrophic; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-dystonia; truncal hypotonia; 2m-seizures, complex partial; no stroke like episodes; encephalopathy; respiratory distress/insufficiency; feeding difficulties; hearing impairment; 5m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; basal ganglia involvement; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 5m Age/Diagnosis - Age/Onset 1d Phenotype/Onset developmental delay, failure to thrive, dystonia 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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