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