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