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