| 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.
|
Autonomic sign/sympt.
Developmental delay Dyskinesia Hypotonia Tremor (any or unspecified) Dystonia, limb Dystonia, focal Dystonia (any or unspecified) Upper limb dystonia Delayed motor development Show more (+7) |
Hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
n.a.
|
Diurnal fluctuations
Dystonia, cervical Dystonia (any or unspecified) Seizures Dyskinesia Delayed motor development Rigidity Dystonia, segmental/multifocal Dystonia, limb Upper limb dystonia Tremor (any or unspecified) Parkinsonism Bradykinesia Hypotonia Oculogyric crisis Developmental delay Dystonia/Parkinsonism Sleep disorder Show more (+15) |
Hypotonia
|