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