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