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