| 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
Other organ iron accumulation Behavioral abnormality Retinopathy Anemia Decreased or absent cerulplasmin Cognitive impairment Dyskinesia Iron disadvantage Other mri abnormality Abnormal central motor function Short stature NMS parkinsonism Ferritin increased Diabetes mellitus Developmental delay/intellectual disability Depression Show more (+14) |
Behavioral abnormality
Cognitive impairment Dyskinesia |