| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
PRT
|
9
|
n.a.
|
No
|
Somnolence
Ptosis Delayed speech and language development -Motor Parkinsonism Muscular hypotonia Motor delay Tremor at rest Intellectual developmental disorder Depression Cognitive impairment Motor fluctuations Bradykinesia Global developmental delay Autonomic sign/sympt. Show more (+12) |
Somnolence
Muscular hypotonia |