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