| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
59
|
n.a.
|
Anemia
Abnormal central motor function Decreased or absent cerulplasmin Hypointensity on basal ganglia and or nigra Cognitive impairment Diabetes mellitus Ferritin increased Other organ iron accumulation NMS parkinsonism Developmental delay/intellectual disability Other mri abnormality Ataxia Gait impairment Iron disadvantage Show more (+11) |
n.a.
|