| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
LBN
|
0
|
3
|
n.a.
|
Oculogyric crisis
Dystonia, generalized Myoclonus Dystonia, axial Diurnal fluctuations Hypotonia Residual motor signs Dystonia, limb Dystonia/Parkinsonism Delayed motor development Dystonia (any or unspecified) Lower limb dystonia Rigidity Tremor (any or unspecified) Parkinsonism Tremor, intention Tremor, action Upper limb dystonia Hyperreflexia Resting tremor Bradykinesia Sleep benefit Dyskinesia Postural instability Developmental delay Show more (+22) |
Tremor (any or unspecified)
Developmental delay |