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