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