| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
POL
|
0
|
3
|
n.a.
|
Spasticity
Hypotonia Dystonia (any or unspecified) Diurnal fluctuations Sleep disorder Developmental delay Intellectual developmental disorder Dyskinesia Myoclonus Delayed motor development Hyperreflexia Sleep benefit Oculogyric crisis Rigidity Postural instability Show more (+12) |
n.a.
|