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