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