Phenotype #0000180473

Individual ID 00240409
Associated disease DYT
Inheritance Familial, autosomal recessive
Diagnosis/Initial dystonia
Age/Examination 48y (48 years)
Diagnosis/Definite DYTOABG
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; …, onset dystonia early childhood, onset optic atrophy mid childhood, no intellectual disability; MRI bilateral hyperintense T2 signal putamen
Protein -
Owner name Johan den Dunnen