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