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