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