| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
13
|
n.a.
|
Oculogyric crisis
Intellectual developmental disorder Cognitive impairment Diurnal fluctuations Dystonia (any or unspecified) Developmental delay Dystonia, axial Dystonia, limb Dystonia, generalized Show more (+6) |
Dystonia (any or unspecified)
|