Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
49
|
54
|
n.a.
|
Dysarthria
Abnormal central motor function Other organ iron accumulation Hyperreflexia Dystonia (any or unspecified) Retinopathy NMS parkinsonism Short stature Gait impairment Chorea Hypointensity on basal ganglia and or nigra Other mri abnormality Cognitive impairment Diabetes mellitus Ferritin increased Iron disadvantage Developmental delay/intellectual disability Anemia Ataxia Muscular hypotonia Decreased or absent cerulplasmin Dystonia, oromandibular Show more (+19) |
Dysarthria
Cognitive impairment |