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