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