| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
51
|
63
|
n.a.
|
Other organ iron accumulation
Dystonia, lower face Developmental delay/intellectual disability Ferritin increased Abnormal central motor function Hypointensity on basal ganglia and or nigra Decreased or absent cerulplasmin Iron disadvantage Cognitive impairment Retinopathy Dystonia (any or unspecified) Other mri abnormality Hyperreflexia Dysarthria Dystonia, upper face Spasticity Dystonia, focal Rigidity Diabetes mellitus Anemia Dystonia, craniofacial Show more (+18) |
Dystonia (any or unspecified)
Rigidity |