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