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