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