Phenotype #0000229832

Individual ID 00302750
Associated disease NBIA
Phenotype details bedridden; psychomotor retardation; walk-1y6m; speech two-word sentences; nonprogressive cognitive dysfunction during childhood; 24y start cognitive decline; 1y until bedridden after decline; dystonia; rigidity; adulthood progressive dementia; no psychiatric symptoms; no epileptic seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 27y-moderate cerebral atrophy, 46y-remarkable cerebral atrophy, no eye of the tiger sign, no white matter involvement, 37y/46y-mild cerebellar atrophy, CT high density in ventral midbrain; EEG abnormal; EMG normal
Diagnosis/Initial static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
Inheritance Isolated (sporadic)
Diagnosis/Definite NBIA5
Age/Examination 51y (51 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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