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