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