Global Variome shared LOVD

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Phenotype #0000025878 Individual ID 00032401 Associated disease COQ10D Phenotype details see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 10m-ataxia; 3y-spasticity; tetraparesis/paraparesis; 12y-seizures, focal; stroke like episodes; sensory polyneuropathy; 2d-respiratory distress/insufficiency; feeding difficulties; scoliosis; MRI brain 12y-17y cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); parieto-occipital, gliosis; no cystic degeneration of cerebellum; no basal ganglia involvement; occipito-cortical, juxtacortical Diagnosis/Initial ataxia Inheritance Familial, autosomal recessive Diagnosis/Definite 18y Age/Examination - Age/Diagnosis - Age/Onset 00y10m Phenotype/Onset ataxia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-02-20 20:25:59 +01:00 (CET) Date last edited 2022-08-22 17:59:09 +02:00 (CEST)

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