| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ESP
|
0
|
2
|
n.a.
|
Tremor (any or unspecified)
Dystonia, limb Sleep benefit Upper limb dystonia Hypotonia Diurnal fluctuations Residual motor signs Myoclonus Dystonia (any or unspecified) Hyperreflexia Dysarthria Autonomic sign/sympt. Dystonia, segmental/multifocal Developmental delay Lower limb dystonia Gait difficulties Delayed motor development Oculogyric crisis Show more (+15) |
Dystonia, limb
Hypotonia |