Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
H
|
GTM
|
1
|
3
|
No
|
Hypotonia
Gait difficulties Dystonia, limb Residual motor signs Lower limb dystonia Dystonia/Parkinsonism Dystonia (any or unspecified) Parkinsonism Dystonia, segmental/multifocal Upper limb dystonia Delayed motor development Diurnal fluctuations Rigidity Show more (+10) |
Dystonia (any or unspecified)
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
24
|
n.a.
|
Intellectual developmental disorder
Dystonia (any or unspecified) Parkinsonism Gait difficulties Resting tremor Depression Dystonia, generalized Tremor (any or unspecified) Delayed motor development Dystonia, axial Hypotonia Developmental regression Dystonia/Parkinsonism Developmental delay Cognitive impairment Dystonia, limb Lower limb dystonia Show more (+14) |
Dystonia (any or unspecified)
Hypotonia |
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
7
|
n.a.
|
Delayed motor development
Diurnal fluctuations Upper limb dystonia Dystonia (any or unspecified) Sleep benefit Postural instability Dystonia/Parkinsonism Dystonia, segmental/multifocal Lower limb dystonia Dystonia, limb Developmental delay Rigidity Myoclonus Resting tremor Gait difficulties Spasticity Intellectual developmental disorder Hypotonia Cognitive impairment Parkinsonism Tremor (any or unspecified) Show more (+18) |
Dystonia (any or unspecified)
Hypotonia |