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