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