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