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