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