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