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