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