| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
23
|
n.a.
|
Dystonia, hand
Dystonia (any or unspecified) Microcephaly Cognitive impairment Dysmorphic features Dystonia, limb Dystonia, arm Global developmental delay Short stature Show more (+6) |
n.a.
|