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