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