Global Variome shared LOVD

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Phenotype #0000307867 Individual ID 00416101 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), 3y6m-died; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 5m-dystonia; 5m-spasticity; tetraparesis/paraparesis; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; 6m-MRI brain no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; Diagnosis/Initial neurodevelopmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 3y6m (3 years, 6 months) Age/Diagnosis - Age/Onset 1d Phenotype/Onset visual impairment 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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