| 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, lower face Delayed speech and language development Dystonia, craniofacial Dystonia, generalized Hyperreflexia Dystonia, leg Dystonia (any or unspecified) Dystonia, limb Dystonia, axial Global developmental delay Muscular hypotonia Motor delay Show more (+10) |
Motor delay
|
|
No
|
♀
|
C
|
POL
|
n.a.
|
n.a.
|
n.a.
|
Hyperreflexia
Tremor (any or unspecified) Dystonia, segmental/multifocal Postural tremor Dystonia, limb Lower limb dystonia Dystonia (any or unspecified) Hand tremor Dystonia, leg Show more (+6) |
Dystonia (any or unspecified)
|