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