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