Global Variome shared LOVD

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

Phenotype #0000229837 Individual ID 00302755 Associated disease NBIA Phenotype details age at deterioration 15y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like features; dystonia; minimal Parkinsonism, only rigidity; limited expressive language; no sleep problems; staring, absence or atonic seizures; high myopia; T2 hypointense substantia nigra and globus pallidus (high iron); no T1 hyperintense ‘halo’ midbrain; cerebral atrophy; cerebellar atrophy Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 16y (16 years) Age/Onset - Phenotype/Onset - 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 10:22:39 +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.