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