Phenotype #0000180474

Individual ID 00240410
Associated disease DYT
Inheritance Familial, autosomal recessive
Diagnosis/Initial dystonia
Age/Examination 00y24m (24 months)
Diagnosis/Definite DYTOABG
Age/Diagnosis -
Age/Onset 00y15m
Phenotype/Onset -
Phenotype details see paper; …, 15m-onset dystonia; no optic atrophy, no intellectual disability; MRI bilateral hyperintense pallidal T2 signal
Protein -
Owner name Johan den Dunnen