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