| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
POL
|
0
|
11
|
n.a.
|
Motor delay
Dystonia, axial Lower limb dystonia Dystonia, limb Dystonia, generalized Dystonia, leg Global developmental delay Dystonia, craniofacial Dystonia (any or unspecified) Muscular hypotonia Delayed speech and language development Dystonia, lower face Hyperreflexia Show more (+10) |
Motor delay
|
|
No
|
♀
|
C
|
POL
|
n.a.
|
n.a.
|
n.a.
|
Dystonia, leg
Dystonia, limb Hand tremor Hyperreflexia Lower limb dystonia Dystonia, segmental/multifocal Dystonia (any or unspecified) Tremor (any or unspecified) Postural tremor Show more (+6) |
Dystonia (any or unspecified)
|