| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
12
|
No
|
Dystonia, limb
Dystonia, oromandibular Dystonia (any or unspecified) Developmental regression Dystonia, axial Abnormal central motor function Dystonia, craniofacial Microcephaly Dysmorphic features Abnormality of skeletal morphology Short stature Dysarthria Show more (+9) |
Developmental regression
|