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