| 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
Gait difficulties Residual motor signs Dyskinesia Developmental delay Delayed motor development Hypotonia Motor fluctuations Autonomic sign/sympt. Seizures Show more (+7) |
Oculogyric crisis
Hypotonia |