| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
BEL
|
57
|
59
|
No
|
Retinopathy
Dystonia, lower face Dystonia (any or unspecified) Other mri abnormality Decreased or absent cerulplasmin Hypointensity on basal ganglia and or nigra Abnormal central motor function Other organ iron accumulation Dystonia, jaw Dystonia, oromandibular Anemia Dystonia, craniofacial Dystonia, focal Diabetes mellitus Ferritin increased Dystonia, upper face Show more (+13) |
Dystonia (any or unspecified)
|