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