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