| 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
Delayed gross motor development Cerebellar atrophy Muscular hypotonia Developmental regression Global developmental delay Abnormal eye movement Motor delay Show more (+5) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
1
|
2
|
n.a.
|
Global developmental delay
Delayed gross motor development Developmental regression Delayed fine motor development Abnormal eye movement Motor delay Cerebellar atrophy Muscular hypotonia Show more (+5) |
n.a.
|