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