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