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
|
Short stature
Motor delay Cognitive impairment Seizures Dystonia, limb Upper limb dystonia Delayed speech and language development Lower limb dystonia Gait difficulties -Motor Dystonia (any or unspecified) Muscular hypotonia Dyskinesia Intellectual developmental disorder Microcephaly Developmental delay/intellectual disability Global developmental delay Phenylketonuria Decreased body weight Show more (+16) |
Muscular hypotonia
Global developmental delay |