Phenotype #0000229823

Individual ID 00302740
Associated disease NBIA
Phenotype details age at deterioration 30y; 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; 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 -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-30 18:20:39 +02:00 (CEST)
Date last edited 2020-05-31 10:07:23 +02:00 (CEST)

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