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