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