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