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