Phenotype #0000180478

Individual ID 00240414
Associated disease DYT
Inheritance Familial, autosomal recessive
Diagnosis/Initial dystonia
Age/Examination 16y (16 years)
Diagnosis/Definite DYTOABG
Age/Diagnosis -
Age/Onset 00y23m
Phenotype/Onset -
Phenotype details see paper; …, 23m-onset dystonia; 6y-onset optic atrophy; deterioration linguistic skills and executive functions to extremely low range (9y); MRI bilateral hyperintense pallidal T2 signal with cavitation and lactate peak on MRS
Protein -
Owner name Johan den Dunnen