| 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
Hypotonia Delayed motor development Developmental delay Lower limb dystonia Oculogyric crisis Dystonia, segmental/multifocal Dyskinesia Upper limb dystonia Dystonia (any or unspecified) Dystonia, limb Residual motor signs Show more (+9) |
Hypotonia
Oculogyric crisis |
|
Yes
|
♂
|
I
|
IND
|
1
|
3
|
n.a.
|
Dystonia, segmental/multifocal
Bradykinesia Dystonia/Parkinsonism Seizures Developmental regression Parkinsonism Delayed motor development Upper limb dystonia Sleep benefit Dystonia (any or unspecified) Developmental delay Dystonia, limb Hypotonia Residual motor signs Show more (+11) |
Bradykinesia
Hypotonia |