| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
48
|
56
|
n.a.
|
Hypomimic face
Dystonia, focal Dystonia (any or unspecified) Other organ iron accumulation Iron disadvantage Resting tremor Abnormal central motor function Dystonia, hand Ferritin increased Anemia Bradykinesia Tremor, action Other mri abnormality Dysarthria Diabetes mellitus Postural tremor Parkinsonism Gait impairment Retinopathy Dystonia, limb Developmental delay/intellectual disability Tremor (any or unspecified) Cognitive impairment Hypointensity on basal ganglia and or nigra Rigidity Behavioral abnormality Show more (+23) |
Bradykinesia
Gait impairment Behavioral abnormality |