| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
51
|
58
|
No
|
Retinopathy
Diabetes mellitus Developmental delay/intellectual disability Iron disadvantage Other mri abnormality Cognitive impairment Ataxia Gait impairment Tremor, head Decreased or absent cerulplasmin Tremor (any or unspecified) Postural instability Hypointensity on basal ganglia and or nigra Ferritin increased Other organ iron accumulation NMS parkinsonism Abnormal central motor function Show more (+14) |
Cognitive impairment
Tremor, head Postural instability |