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