Karam, 2011: Overview of all reported DYT/PARK-QDPR patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
LBN
|
1
|
5
|
No
|
Microcephaly
Short stature Decreased body weight Lower limb dystonia Upper limb dystonia Phenylketonuria Intellectual developmental disorder Delayed speech and language development Dystonia, limb Global developmental delay Muscular hypotonia Dystonia (any or unspecified) -Motor Gait difficulties Seizures Dyskinesia Motor delay Developmental delay/intellectual disability Cognitive impairment Show more (+16) |
Global developmental delay
Muscular hypotonia |