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