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