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
Cognitive impairment -Motor Intellectual developmental disorder Parkinsonism Motor fluctuations Motor delay Ptosis Global developmental delay Muscular hypotonia Tremor at rest Bradykinesia Delayed speech and language development Depression Autonomic sign/sympt. Show more (+12) |
Somnolence
Muscular hypotonia |