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