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