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