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