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