| 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.
|
Tremor (any or unspecified)
Anxiety |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
14
|
n.a.
|
Dysarthria
Dystonia, limb Lower limb dystonia Dystonia, task-specific Dystonia, focal Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
11
|
n.a.
|
Diurnal fluctuations
Dystonia, axial Dyskinesia Dystonia, focal Parkinsonism Dystonia/Parkinsonism Sleep benefit Hypotonia Myoclonus Hyperreflexia Dystonia (any or unspecified) Bradykinesia Rigidity Dysarthria Tremor (any or unspecified) Show more (+12) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
No
|
Sleep disorder
Delayed motor development Intellectual developmental disorder Autonomic sign/sympt. Developmental delay Hypotonia Cognitive impairment Show more (+4) |
Hypotonia
|