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