| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
18
|
n.a.
|
Anxiety
Tremor (any or unspecified) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
14
|
n.a.
|
Dystonia (any or unspecified)
Lower limb dystonia Dystonia, limb Dystonia, focal Dystonia, task-specific Dysarthria Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
11
|
n.a.
|
Dysarthria
Hypotonia Dystonia/Parkinsonism Myoclonus Sleep benefit Dystonia, axial Dystonia, focal Dyskinesia Diurnal fluctuations Dystonia (any or unspecified) Hyperreflexia Bradykinesia Rigidity Parkinsonism Tremor (any or unspecified) Show more (+12) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
No
|
Developmental delay
Delayed motor development Cognitive impairment Intellectual developmental disorder Hypotonia Sleep disorder Autonomic sign/sympt. Show more (+4) |
Hypotonia
|