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