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