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