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