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