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