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