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