Phenotype #0000180475

Individual ID 00240411
Associated disease DYT
Inheritance Familial, autosomal recessive
Diagnosis/Initial dystonia
Age/Examination 27y (27 years)
Diagnosis/Definite DYTOABG
Age/Diagnosis -
Age/Onset 02y-03y
Phenotype/Onset -
Phenotype details see paper; …, 2y-3y-onset dystonia; 8y onset optic atrophy, no intellectual disability; MRI bilateral hyperintense T2 signal dorsal striatum
Protein -
Owner name Johan den Dunnen