| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Developmental regression
Spasticity Abnormal central motor function Muscular hypotonia Nystagmus Cerebellar atrophy Bulbar dysfunction Pyramidal sign Strabismus Show more (+6) |
Developmental regression
Muscular hypotonia Strabismus |
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Developmental regression
Pyramidal sign Strabismus Abnormal central motor function Nystagmus Spasticity Cerebellar atrophy Bulbar dysfunction Muscular hypotonia Show more (+6) |
Developmental regression
|