Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
LKA
|
2
|
17
|
n.a.
|
Diurnal fluctuations
Dystonia, segmental/multifocal Oculogyric crisis Dystonia (any or unspecified) Dystonia, cervical Sleep disorder Autonomic sign/sympt. Developmental delay Hypotonia Delayed motor development Show more (+7) |
Developmental delay
Hypotonia |
|
No
|
♀
|
A
|
LKA
|
1
|
9
|
n.a.
|
Hypotonia
Dystonia (any or unspecified) Dystonia, limb Dyskinesia Developmental delay Lower limb dystonia Diurnal fluctuations Dystonia, segmental/multifocal Upper limb dystonia Delayed motor development Oculogyric crisis Show more (+8) |
Hypotonia
Developmental delay |