Global Variome shared LOVD

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Phenotype #0000307870 Individual ID 00416104 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), birth preterm ; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cortical blindness; dilated cardiomyopathy; 14m-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; mild thinning corpus callosum; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 1y6m (1 year, 6 months) Age/Diagnosis - Age/Onset 1d Phenotype/Onset respiratory distress/hypotonia 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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