| 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.
|
Upper limb dystonia
Intellectual developmental disorder Decreased body weight Dystonia, limb Tremor (any or unspecified) Short stature Residual motor signs Hypotonia Lower limb dystonia Bradykinesia Dystonia/Parkinsonism Parkinsonism Dystonia (any or unspecified) Gait difficulties Delayed motor development Dystonia, segmental/multifocal Developmental delay Cognitive impairment Show more (+15) |
Dystonia (any or unspecified)
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
5
|
n.a.
|
Tremor (any or unspecified)
Upper limb dystonia Short stature Cognitive impairment Gait difficulties Decreased body weight Dystonia, limb Dystonia, segmental/multifocal Lower limb dystonia Intellectual developmental disorder Dystonia (any or unspecified) Residual motor signs Dystonia/Parkinsonism Bradykinesia Parkinsonism Developmental delay Delayed motor development Hypotonia Show more (+15) |
Dystonia (any or unspecified)
|
|
No
|
♂
|
n.a.
|
n.a.
|
0
|
5
|
n.a.
|
Cognitive impairment
Intellectual developmental disorder Dystonia (any or unspecified) Hypotonia Delayed motor development Dystonia, limb Residual motor signs Dystonia, segmental/multifocal Decreased body weight Developmental delay Lower limb dystonia Dystonia/Parkinsonism Parkinsonism Upper limb dystonia Short stature Tremor (any or unspecified) Gait difficulties Bradykinesia Show more (+15) |
Dystonia (any or unspecified)
|