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