| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
SAU
|
4
|
7
|
n.a.
|
Polycythemia
T1 hyperintensities on MRI Ferritin disadvantage Dystonia, focal Dystonia, foot Hypermanganesemia Dystonia (any or unspecified) Dystonia, limb Dysarthria Muscular hypotonia Show more (+7) |
Dysarthria
Muscular hypotonia |