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