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