| 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
Dysarthria Hypotonia Cognitive impairment Developmental delay Seizures Dystonia (any or unspecified) Delayed motor development Diurnal fluctuations Tremor (any or unspecified) Show more (+7) |
n.a.
|
|
Yes
|
♀
|
B
|
JOR
|
1
|
8
|
n.a.
|
Dystonia (any or unspecified)
Cognitive impairment Delayed motor development Hypotonia Developmental delay Oculogyric crisis Diurnal fluctuations Dysarthria Tremor (any or unspecified) Seizures Show more (+7) |
n.a.
|