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