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