| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
A
|
CHN
|
0
|
2
|
No
|
Spasticity
Global developmental delay Cognitive impairment Intellectual developmental disorder Hyperreflexia Abnormal central motor function Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
A
|
CHN
|
0
|
1
|
No
|
Muscular hypotonia
Cognitive impairment Global developmental delay Intellectual developmental disorder Show more (+1) |
n.a.
|