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