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