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