| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
2
|
n.a.
|
Hypotonia
Developmental regression Parkinsonism Rigidity Bradykinesia Sleep disorder Developmental delay Delayed motor development Dyskinesia Myoclonus Intellectual developmental disorder Tremor (any or unspecified) Oculogyric crisis Show more (+10) |
Developmental delay
Oculogyric crisis |