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