| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
n.a.
|
0
|
5
|
n.a.
|
Oculogyric crisis
Developmental delay Intellectual developmental disorder Bradykinesia Parkinsonism Autonomic sign/sympt. Residual motor signs Delayed motor development Diurnal fluctuations Hypotonia Cognitive impairment Show more (+8) |
Developmental delay
Hypotonia |