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