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