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
Oculogyric crisis Muscular hypotonia Global developmental delay Dystonia (any or unspecified) Show more (+2) |
Global developmental delay
|