Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
ITA
|
53
|
53
|
n.a.
|
Hypomimic face
Hypointensity on basal ganglia and or nigra Dystonia, cervical Iron disadvantage Abnormal central motor function Dystonia (any or unspecified) Bradykinesia Other organ iron accumulation Retinopathy Diabetes mellitus Gait impairment Anemia Seizures Ferritin increased Show more (+11) |
Hypomimic face
Dystonia (any or unspecified) Gait impairment |