| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
0
|
1
|
No
|
Hyperreflexia
Dystonia (any or unspecified) Muscular hypotonia Oculogyric crisis Global developmental delay Show more (+2) |
Global developmental delay
|