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