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