Phenotype #0000230010

Individual ID 00302926
Associated disease NBIA
Phenotype details see paper; ..., 9y-intellectual disability; 31y-left dominant progressive parkinsonism; MRI brain T1-weighted signal hyperintensity substantia nigra with central band of hypointensity, T2 star weighted image hypointensity substantia nigra and globus pallidus presenting dominant at right side
Diagnosis/Initial intellectual disability
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-04 18:38:48 +02:00 (CEST)
Date last edited N/A

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