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