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)
Microcephaly -Motor Cognitive impairment Intellectual developmental disorder Motor delay Global developmental delay Muscular hypotonia Show more (+5) |
Dystonia (any or unspecified)
Microcephaly Global developmental delay |
|
Yes
|
♂
|
A
|
CHN
|
0
|
8
|
No
|
Intellectual developmental disorder
-Motor Motor delay Dystonia (any or unspecified) Cognitive impairment Global developmental delay Microcephaly Show more (+4) |
Dystonia (any or unspecified)
Global developmental delay Microcephaly |