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