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