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