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 InternationalCreative Commons License
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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