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.
|
Dystonia, focal
Retinopathy Diabetes mellitus Dystonia (any or unspecified) Anemia Other organ iron accumulation Abnormal central motor function Behavioral abnormality Cognitive impairment Ataxia Gait impairment Dyskinesia Iron disadvantage Chorea Dystonia, limb Developmental delay/intellectual disability Other mri abnormality Hypointensity on basal ganglia and or nigra Show more (+15) |
Behavioral abnormality
Cognitive impairment |