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