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