Global Variome shared LOVD

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Phenotype #0000307854 Individual ID 00416088 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 2m-died cardio-respiratory failure; normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures, generalized; no stroke like episodes; encephalopathy; 2m-respiratory distress/insufficiency; feeding difficulties; hypertrophic; glomerulosclerosis; 1w-MRI brain cerebellar hypoplasia; no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; diffuse hyperintensities T2/FLAIR white matter; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 2m Age/Diagnosis - Age/Onset 1d Phenotype/Onset respiratory distress 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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