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