| 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 mri abnormality
Decreased or absent cerulplasmin Developmental delay/intellectual disability Dystonia, lower face Rigidity Ferritin increased Dysarthria Dystonia, craniofacial Dystonia (any or unspecified) Cognitive impairment Abnormal central motor function Dystonia, upper face Other organ iron accumulation Diabetes mellitus Iron disadvantage Spasticity Retinopathy Hypointensity on basal ganglia and or nigra Hyperreflexia Dystonia, focal Anemia Show more (+18) |
Rigidity
Dystonia (any or unspecified) |