| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
ITA
|
0
|
1
|
No
|
Neuromuscular abnormality
Muscular hypotonia Cerebellar atrophy Hypotonia Nystagmus Developmental regression Show more (+3) |
Nystagmus
|