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