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