Global Variome shared LOVD

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

Phenotype #0000229899 Individual ID 00302817 Associated disease NBIA Phenotype details febrile convulsion at infant; no speech; cognitive dysfunction during childhood; developmental delay, intellectual disability; wheelchair bound; cognitive dysfunction; 34y-Parkinsonism, rigidity, tremor; postural abnormality; no dystonia; no increasing deep tendon reflex; appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; no epileptic seizure; good Levodopa responsive; no Levodopa-induced dyskinesia; no RETT-like features; no sleep problems; no ocular defects; MRI brain T2 hypointense substantia nigra and globus pallidus (high iron), T1 hyperintense ‘halo’ in midbrain, no eye-of-the-tiger sign, no white matter involvement, diffuse cerebral atrophy, no cerebellar atrophy Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 35y (35 years) Age/Onset - Phenotype/Onset cognitive dysfunction Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-01 13:42:38 +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.