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