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