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