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