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