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