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