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