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