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