Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
1
|
2
|
No
|
Dystonia (any or unspecified)
Global developmental delay Intellectual developmental disorder Muscular hypotonia Motor delay Microcephaly Cognitive impairment -Motor Show more (+5) |
Dystonia (any or unspecified)
Global developmental delay Microcephaly |
|
Yes
|
♂
|
A
|
CHN
|
0
|
8
|
No
|
Motor delay
Global developmental delay -Motor Dystonia (any or unspecified) Microcephaly Intellectual developmental disorder Cognitive impairment Show more (+4) |
Global developmental delay
Dystonia (any or unspecified) Microcephaly |