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