Global Variome shared LOVD

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Phenotype #0000229830 Individual ID 00302748 Associated disease NBIA Phenotype details wheelchair bound; psychomotor retardation; walk-2y7m; speech one word; nonprogressive cognitive dysfunction during childhood; 25y start cognitive decline; dystonia; rigidity, akinesia; adulthood progressive dementia; aggressive behaviors; epileptic seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 25y/27y-moderate cerebral atrophy, no eye of the tiger sign, no white matter involvement, 25y/27y-mild cerebellar atrophy, CT mild high density in substantia nigra; EEG bilateral frontal spike, low voltage, slow wave Diagnosis/Initial static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 28y (28 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 10:03:40 +02:00 (CEST) Date last edited N/A

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