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