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