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