| 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.
|
Developmental regression
Tremor (any or unspecified) Myoclonus Bradykinesia Intellectual developmental disorder Sleep disorder Rigidity Oculogyric crisis Dyskinesia Delayed motor development Hypotonia Developmental delay Parkinsonism Show more (+10) |
Oculogyric crisis
Developmental delay |