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