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