| 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.
|
Abnormal central motor function
Strabismus Nystagmus Developmental regression Pyramidal sign Muscular hypotonia Spasticity Bulbar dysfunction Cerebellar atrophy Show more (+6) |
Strabismus
Developmental regression Muscular hypotonia |
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Abnormal central motor function
Developmental regression Pyramidal sign Nystagmus Cerebellar atrophy Spasticity Strabismus Bulbar dysfunction Muscular hypotonia Show more (+6) |
Developmental regression
|