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