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