Global Variome shared LOVD

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

Phenotype #0000229835 Individual ID 00302753 Associated disease NBIA Phenotype details age at deterioration 20y; 27y-deceased; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; limited expressive language; no sleep problems; no epliepsy; no ocular defects; cerebral atrophy; no cerebellar atrophy; neuro-pathology Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 27y (27 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

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