Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
23
|
n.a.
|
Dysmorphic features
Global developmental delay Microcephaly Dystonia (any or unspecified) Cognitive impairment Short stature Dystonia, hand Dystonia, arm Dystonia, limb Show more (+6) |
n.a.
|