| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
B
|
JOR
|
1
|
8
|
n.a.
|
Oculogyric crisis
Diurnal fluctuations Seizures Tremor (any or unspecified) Dysarthria Developmental delay Cognitive impairment Dystonia (any or unspecified) Hypotonia Delayed motor development Show more (+7) |
n.a.
|
|
Yes
|
♀
|
B
|
JOR
|
1
|
8
|
n.a.
|
Hypotonia
Dysarthria Dystonia (any or unspecified) Oculogyric crisis Developmental delay Diurnal fluctuations Tremor (any or unspecified) Delayed motor development Cognitive impairment Seizures Show more (+7) |
n.a.
|