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