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