| 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.
|
Microcephaly
Dystonia, limb Dystonia, arm Dystonia, hand Short stature Dysmorphic features Global developmental delay Dystonia (any or unspecified) Cognitive impairment Show more (+6) |
n.a.
|