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