| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
n.a.
|
n.a.
|
51
|
n.a.
|
Anemia
Hypointensity on basal ganglia and or nigra Retinopathy Other organ iron accumulation Dyskinesia Other mri abnormality Diabetes mellitus Developmental delay/intellectual disability Dystonia, focal Chorea Dystonia, limb Iron disadvantage Dystonia (any or unspecified) Abnormal central motor function Ataxia Behavioral abnormality Cognitive impairment Gait impairment Show more (+15) |
Behavioral abnormality
Cognitive impairment |