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