| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
11
|
n.a.
|
Short stature
Dystonia, limb Decreased body weight Lower limb dystonia Dystonia (any or unspecified) Dystonia, leg Motor delay Dystonia, segmental/multifocal Diurnal fluctuations Show more (+6) |
n.a.
|