Phenotype #0000229829

Individual ID 00302747
Associated disease NBIA
Phenotype details bedridden; psychomotor retardation; walk-3y; speech no word; nonprogressive cognitive dysfunction during childhood; 26y start cognitive decline; 4y until bedridden after decline; dystonia; rigidity, akinesia; adulthood progressive dementia; aggressive behaviors; epileptic seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 25y-moderate cerebral atrophy, 32y/33y-remarkable cerebral atrophy, no eye of the tiger sign, no white matter involvement, 25y/32y/33y-mild cerebellar atrophy, CT high density in globus pallidus; EEG bilateral frontal spike; visual evoked potential normal; auditory brainstem response low amplitude, normal latency
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 InternationalCreative Commons License
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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