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