| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
59
|
n.a.
|
Developmental delay/intellectual disability
Cognitive impairment Anemia Ferritin increased Other organ iron accumulation Ataxia Gait impairment Other mri abnormality NMS parkinsonism Diabetes mellitus Decreased or absent cerulplasmin Abnormal central motor function Iron disadvantage Hypointensity on basal ganglia and or nigra Show more (+11) |
n.a.
|