Global Variome shared LOVD

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Phenotype #0000229831 Individual ID 00302749 Associated disease NBIA Phenotype details bedridden; psychomotor retardation; walk-2y2m; speech no word; nonprogressive cognitive dysfunction during childhood; 30y start cognitive decline; 3y until bedridden after decline; dystonia; rigidity; adulthood progressive dementia; no psychiatric symptoms; febrile seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 32y-moderate cerebral atrophy, 39y-remarkable cerebral atrophy, no eye of the tiger sign, no white matter involvement, 33y/39y-mild cerebellar atrophy, CT high density in substantia nigra; EEG low voltage; EMG dystonic pattern; evoked potential normal prolonged P100 latency; auditory brainstem response no response at 100 dB Diagnosis/Initial static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 40y (40 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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