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