Global Variome shared LOVD

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Phenotype #0000229833 Individual ID 00302751 Associated disease NBIA Phenotype details bedridden; psychomotor retardation; walk-1y6m; speech few words; nonprogressive cognitive dysfunction during childhood; 23y start cognitive decline; 1y until bedridden after decline; dystonia; rigidity, tremor, impairment of postural reflex; adulthood progressive dementia; anxiety; epileptic seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 33y-remarkable cerebral atrophy, no eye of the tiger sign, no white matter involvement, 33y-mild cerebellar atrophy, CT high density in globus pallidus; EEG abnormal; visual evoked potential normal Diagnosis/Initial static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) 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 10:03:40 +02:00 (CEST) Date last edited N/A

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