| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
I
|
IND
|
1
|
2
|
n.a.
|
Dyskinesia
Delayed motor development Developmental delay Dystonia, limb Oculogyric crisis Lower limb dystonia Dystonia, segmental/multifocal Hypotonia Dystonia (any or unspecified) Developmental regression Residual motor signs Upper limb dystonia Show more (+9) |
Oculogyric crisis
Hypotonia |
|
Yes
|
♂
|
I
|
IND
|
1
|
3
|
n.a.
|
Dystonia, segmental/multifocal
Hypotonia Bradykinesia Upper limb dystonia Developmental delay Dystonia/Parkinsonism Sleep benefit Seizures Residual motor signs Developmental regression Dystonia, limb Delayed motor development Parkinsonism Dystonia (any or unspecified) Show more (+11) |
Hypotonia
Bradykinesia |