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