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