| 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, focal
Dysarthria Dystonia, task-specific Lower limb dystonia Dystonia (any or unspecified) Dystonia, limb Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
11
|
n.a.
|
Bradykinesia
Sleep benefit Hypotonia Myoclonus Dysarthria Tremor (any or unspecified) Dyskinesia Rigidity Dystonia, axial Dystonia, focal Diurnal fluctuations Parkinsonism Dystonia/Parkinsonism Hyperreflexia Dystonia (any or unspecified) Show more (+12) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
No
|
Cognitive impairment
Hypotonia Sleep disorder Intellectual developmental disorder Delayed motor development Autonomic sign/sympt. Developmental delay Show more (+4) |
Hypotonia
|