| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
62
|
62
|
n.a.
|
Other organ iron accumulation
Diabetes mellitus Cognitive impairment Iron disadvantage Dystonia (any or unspecified) Ataxia Other mri abnormality Ferritin increased Abnormal central motor function Parkinsonism Anemia Hypointensity on basal ganglia and or nigra Decreased or absent cerulplasmin Developmental delay/intellectual disability NMS parkinsonism Retinopathy Show more (+13) |
Dystonia (any or unspecified)
Parkinsonism |