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