| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
46
|
52
|
n.a.
|
Other organ iron accumulation
Postural tremor, upper limb Anemia Postural tremor Other mri abnormality Hypointensity on basal ganglia and or nigra Dystonia (any or unspecified) Ataxia Hand tremor Diabetes mellitus Dystonia, focal Dystonia, cervical Ferritin increased Cognitive impairment Abnormal central motor function Retinopathy Tremor, limb Dystonia, axial Tremor (any or unspecified) Decreased or absent cerulplasmin Rigidity Gait impairment Show more (+19) |
n.a.
|