Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000307866 Individual ID 00416100 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infantile dystonia; truncal hypotonia; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; MRI brain 3w-1y4m 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 3y (3 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset developmental delay 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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