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