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