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