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