| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
53
|
n.a.
|
Lower limb dystonia
Dystonia (any or unspecified) Spasticity Developmental regression Dystonia, limb Delayed motor development Developmental delay Gait difficulties Dystonia, axial Dystonia, generalized Residual motor signs Show more (+8) |
Dystonia (any or unspecified)
|
|
No
|
♂
|
n.a.
|
n.a.
|
3
|
42
|
n.a.
|
Gait difficulties
Dystonia (any or unspecified) Lower limb dystonia Dystonia, limb Spasticity Developmental regression Dystonia, generalized Intellectual developmental disorder Anxiety Developmental delay Cognitive impairment Dystonia, axial Delayed motor development Hyperreflexia Bradykinesia Hypotonia Tremor (any or unspecified) Show more (+14) |
Dystonia (any or unspecified)
Hypotonia |