Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
SRB
|
3
|
5
|
n.a.
|
Developmental delay/intellectual disability
Cognitive impairment Dystonia (any or unspecified) Intellectual developmental disorder Show more (+1) |
Dystonia (any or unspecified)
|