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