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