Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000229839 Individual ID 00302757 Associated disease NBIA Phenotype details see paper; ..., severe intellectual disability; behavioural problems; nonprogressive cognitive dysfunction during childhood; 35y start of progressive cognitive decline; depressive symptoms in adulthood?; wheelchair bound; no speech; myopia; dystonia; Parkinsonism rigidity, tremor; EEG epileptic seizures absences, tonic-clonic, tonic (multiple spikes); urinary incontinence; MRI brain iIron deposition globus pallidus, substantia nigra, nucleus ruber; MRI brain cerebral atrophy Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 52y (52 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 12:18:39 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.