Global Variome shared LOVD

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Phenotype #0000307869 Individual ID 00416103 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; no truncal hypotonia; 2m-seizures, infantile spasm ; no stroke like episodes; no visual impairment/eye movement disorder; no cardiomyopathy; 32m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; thinning corpus callosum; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset 2m Phenotype/Onset infantile spasm 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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