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