| 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.
|
Dystonia, lower face
Dystonia, upper face Dystonia (any or unspecified) Abnormal central motor function Dystonia, oromandibular Blepharospasm Seizures Dystonia, generalized Gait difficulties Tremor (any or unspecified) Dystonia, hand Dystonia, jaw Hand tremor Dystonia, craniofacial Motor delay Dystonia, limb Delayed gross motor development Lower limb dystonia Upper limb dystonia Dystonia, arm Intellectual developmental disorder Tremor, limb Delayed fine motor development Dystonia, axial Hyperreflexia Sleep benefit Cognitive impairment Sleep disorder Dystonia, leg Dyskinesia Diurnal fluctuations Motor fluctuations Dystonia, foot Rigidity Delayed speech and language development Global developmental delay Show more (+33) |
Seizures
|