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