Global Variome shared LOVD

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

Phenotype #0000229836 Individual ID 00302754 Associated disease NBIA Phenotype details see paper; ..., age at deterioration 29y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like features; dystonia; no Parkinsonism; limited expressive language; no sleep problems; febrile seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; cerebellar atrophy Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 31y (31 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 2020-06-01 11:54:55 +02:00 (CEST)

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