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