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