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