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