Global Variome shared LOVD

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Phenotype #0000229838 Individual ID 00302756 Associated disease NBIA Phenotype details see paper; ..., moderate intellectual disability; behavioural problems; nonprogressive cognitive dysfunction during childhood; 32y start of progressive cognitive decline; no psychopathology; wheelchair bound; speech single word; no myopia; dystonia; no Parkinsonism; EEG epileptic seizures focal in early infancy?; urinary incontinence; MRI brain iIron deposition globus pallidus, mesencephalic peduncles; MRI brain cerebral atrophy Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 33y (33 years) Age/Onset - Phenotype/Onset psychomotor retardation Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-31 12:18:39 +02:00 (CEST) Date last edited N/A

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