| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
14
|
n.a.
|
Upper limb dystonia
Developmental delay Autonomic sign/sympt. Tremor (any or unspecified) Dystonia, limb Dystonia, focal Hypotonia Dystonia (any or unspecified) Delayed motor development Dyskinesia Show more (+7) |
Hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
n.a.
|
Dystonia, limb
Developmental delay Oculogyric crisis Upper limb dystonia Dystonia, segmental/multifocal Delayed motor development Tremor (any or unspecified) Dystonia, cervical Rigidity Parkinsonism Sleep disorder Bradykinesia Hypotonia Diurnal fluctuations Seizures Dyskinesia Dystonia/Parkinsonism Dystonia (any or unspecified) Show more (+15) |
Hypotonia
|