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