| 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, generalized
Dystonia (any or unspecified) Gait difficulties Delayed motor development Developmental delay Myoclonus Dystonia, axial Show more (+4) |
Dystonia (any or unspecified)
Myoclonus |
|
Yes
|
♀
|
O
|
n.a.
|
1
|
27
|
n.a.
|
Intellectual developmental disorder
Upper limb dystonia Dystonia (any or unspecified) Dysarthria Dystonia, generalized Delayed motor development Gait difficulties Hypotonia Myoclonus Dystonia, limb Residual motor signs Developmental delay Oculogyric crisis Spasticity Dystonia, axial Show more (+12) |
Hypotonia
Myoclonus Developmental delay |
|
No
|
♀
|
O
|
n.a.
|
1
|
24
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, generalized Dystonia, axial Upper limb dystonia Developmental delay Delayed motor development Gait difficulties Dystonia, limb Dysarthria Myoclonus Show more (+7) |
Developmental delay
Myoclonus |