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