| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
JPN
|
n.a.
|
58
|
n.a.
|
Other mri abnormality
Cognitive impairment Depression Hypointensity on basal ganglia and or nigra Abnormal central motor function Developmental delay/intellectual disability Dyskinesia Behavioral abnormality Iron disadvantage Other organ iron accumulation Ferritin increased Decreased or absent cerulplasmin Retinopathy Short stature Anemia NMS parkinsonism Diabetes mellitus Show more (+14) |
Cognitive impairment
Dyskinesia Behavioral abnormality |