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