| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
n.a.
|
0
|
10
|
Yes
|
Developmental regression
Muscular hypotonia Motor delay Dystonia, limb Dystonia (any or unspecified) Dystonia, generalized Dystonia, axial Rigidity Dyskinesia Dystonia, parkinsonism or dyskinesia Dystonic tremor Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
35
|
Yes
|
Dystonia (any or unspecified)
Dystonia, parkinsonism or dyskinesia Developmental regression Parkinsonism Bradykinesia Dystonic tremor Rigidity Motor delay Tremor (any or unspecified) Dystonia, generalized Resting tremor Show more (+8) |
n.a.
|