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