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