| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
44
|
n.a.
|
Delayed speech and language development
Dystonia, axial Delayed gross motor development Dystonia, foot Dystonia, upper face Tremor (any or unspecified) Global developmental delay Lower limb dystonia Dystonia, limb Dystonia, craniofacial Intellectual developmental disorder Dystonia, lower face Sleep benefit Motor fluctuations Dystonia, oromandibular Hand tremor Cognitive impairment Dystonia, hand Tremor, limb Dystonia, generalized Rigidity Dystonia, jaw Dystonia, arm Diurnal fluctuations Sleep disorder Dystonia, leg Upper limb dystonia Gait difficulties Seizures Hyperreflexia Dyskinesia Abnormal central motor function Delayed fine motor development Dystonia (any or unspecified) Blepharospasm Motor delay Show more (+33) |
Seizures
|