| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
O
|
n.a.
|
1
|
19
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, axial Dystonia, generalized Delayed motor development Myoclonus Gait difficulties Developmental delay Show more (+4) |
Dystonia (any or unspecified)
Myoclonus |
|
Yes
|
♀
|
O
|
n.a.
|
1
|
27
|
n.a.
|
Spasticity
Intellectual developmental disorder Dystonia (any or unspecified) Myoclonus Dystonia, axial Delayed motor development Dystonia, generalized Dysarthria Upper limb dystonia Developmental delay Residual motor signs Gait difficulties Oculogyric crisis Hypotonia Dystonia, limb Show more (+12) |
Myoclonus
Developmental delay Hypotonia |
|
No
|
♀
|
O
|
n.a.
|
1
|
24
|
n.a.
|
Dystonia, axial
Gait difficulties Delayed motor development Dystonia, limb Dystonia, generalized Developmental delay Dystonia (any or unspecified) Myoclonus Upper limb dystonia Dysarthria Show more (+7) |
Developmental delay
Myoclonus |