| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
PRT
|
2
|
n.a.
|
n.a.
|
Pyramidal sign
Nystagmus Hypotonia Mri brain other abnormalities Strabismus Abnormal central motor function Abnormal eye movement Developmental regression Muscular hypotonia Anarthria Cerebellar atrophy Motor delay Show more (+9) |
Hypotonia
|