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