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