| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
5
|
No
|
Global developmental delay
Muscular hypotonia Hyperreflexia Microcephaly Dystonia (any or unspecified) Spasticity Gait difficulties Behavioral issues -Motor Oculogyric crisis Show more (+7) |
n.a.
|