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