Knopp, 2019: Overview of all reported CHOR-PDE10A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
B
AFG
n.a.
1
Yes
Muscular hypotonia
Dyskinesia
Motor delay
-Motor
Chorea
Axial hypotonia
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n.a.
Yes
B
AFG
1
6
Yes
Gait impairment
Chorea
Seizures
Muscular hypotonia
-Motor
Dyskinesia
Motor delay
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n.a.