| 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 (any or unspecified)
Abnormal central motor function Abnormality of skeletal morphology Dystonia, limb Dysmorphic features Dystonia, craniofacial Short stature Dystonia, axial Dystonia, oromandibular Microcephaly Developmental regression Dysarthria Show more (+9) |
Developmental regression
|