| 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.
|
Developmental regression
Dystonia, generalized Delayed motor development Dystonia, axial Developmental delay Gait difficulties Residual motor signs Dystonia, limb Dystonia (any or unspecified) Lower limb dystonia Spasticity Show more (+8) |
Dystonia (any or unspecified)
|
|
No
|
♂
|
n.a.
|
n.a.
|
3
|
42
|
n.a.
|
Anxiety
Dystonia, limb Bradykinesia Delayed motor development Hyperreflexia Hypotonia Cognitive impairment Spasticity Dystonia, generalized Dystonia (any or unspecified) Intellectual developmental disorder Developmental delay Developmental regression Gait difficulties Tremor (any or unspecified) Lower limb dystonia Dystonia, axial Show more (+14) |
Hypotonia
Dystonia (any or unspecified) |