| 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.
|
Ferritin increased
Abnormal central motor function Iron disadvantage Hypointensity on basal ganglia and or nigra Other mri abnormality Developmental delay/intellectual disability Gait impairment Anemia NMS parkinsonism Other organ iron accumulation Diabetes mellitus Decreased or absent cerulplasmin Ataxia Cognitive impairment Show more (+11) |
n.a.
|