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