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