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