| 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.
|
Abnormal eye movement
Strabismus Mri brain other abnormalities Muscular hypotonia Cerebellar atrophy Developmental regression Pyramidal sign Hypotonia Anarthria Abnormal central motor function Motor delay Nystagmus Show more (+9) |
Hypotonia
|