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