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