| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
FRA
|
0
|
4
|
n.a.
|
Oculogyric crisis
Delayed motor development Autonomic sign/sympt. Hypotonia Residual motor signs Gait difficulties Motor fluctuations Seizures Developmental delay Dyskinesia Show more (+7) |
Oculogyric crisis
Hypotonia |