Phenotype #0000180479

Individual ID 00240415
Associated disease DYT
Diagnosis/Initial dystonia
Diagnosis/Definite DYTOABG
Phenotype details see paper; …, 3y-onset dystonia; 5y-onset optic atrophy; low average verbal comprehension with extremely low function on other WISC IV indices; MRI bilateral hyperintense pallidal T2 signal with lactate peak on MRS
Inheritance Familial, autosomal recessive
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset 03y
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 2019-06-19 19:58:50 +02:00 (CEST)
Date last edited 2019-06-19 20:51:07 +02:00 (CEST)

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