| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
1
|
2
|
n.a.
|
Developmental regression
Cerebellar atrophy Muscular hypotonia Motor delay Delayed fine motor development Global developmental delay Delayed gross motor development Abnormal eye movement Show more (+5) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
1
|
2
|
n.a.
|
Global developmental delay
Abnormal eye movement Motor delay Delayed fine motor development Developmental regression Muscular hypotonia Delayed gross motor development Cerebellar atrophy Show more (+5) |
n.a.
|