| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
0
|
2
|
n.a.
|
Tremor (any or unspecified)
Residual motor signs Lower limb dystonia Decreased body weight Delayed motor development Intellectual developmental disorder Bradykinesia Dystonia, segmental/multifocal Developmental delay Cognitive impairment Parkinsonism Gait difficulties Short stature Hypotonia Dystonia (any or unspecified) Upper limb dystonia Dystonia, limb Dystonia/Parkinsonism Show more (+15) |
Dystonia (any or unspecified)
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
5
|
n.a.
|
Residual motor signs
Dystonia, limb Short stature Dystonia, segmental/multifocal Bradykinesia Dystonia/Parkinsonism Upper limb dystonia Developmental delay Lower limb dystonia Intellectual developmental disorder Hypotonia Parkinsonism Gait difficulties Cognitive impairment Decreased body weight Dystonia (any or unspecified) Delayed motor development Tremor (any or unspecified) Show more (+15) |
Dystonia (any or unspecified)
|
|
No
|
♂
|
n.a.
|
n.a.
|
0
|
5
|
n.a.
|
Hypotonia
Residual motor signs Intellectual developmental disorder Lower limb dystonia Developmental delay Gait difficulties Dystonia/Parkinsonism Dystonia, limb Decreased body weight Upper limb dystonia Short stature Parkinsonism Tremor (any or unspecified) Dystonia (any or unspecified) Dystonia, segmental/multifocal Delayed motor development Cognitive impairment Bradykinesia Show more (+15) |
Dystonia (any or unspecified)
|